Sugi Variant

Sugi Variant/SUCLA2

SUCLA2 — 470 ClinVar variants

All ClinVar germline SUCLA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

15 Pathogenic · 5 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 24 Conflicting · 47 Benign · 8 Benign/Likely benign · 170 Likely benign · 184 Uncertain significance

Full SUCLA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 119

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

The independent predictors disagree with each other — read with care.

All SUCLA2 variants

Pathogenic 15

  • c.534+1G>A Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.371+1G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.964+1G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp347fs Single submitter Inborn genetic diseases
  • p.Gln296fs Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln49Ter Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln50Ter Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Trp294fs Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr7Ter Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr84Ter Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val370fs Single submitter
  • p.Val404fs Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val413_Asp414insTer Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.789_802+29delinsATAAA No assertion criteria mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly118Arg No assertion criteria mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Pathogenic/Likely pathogenic 5

  • p.Ala307Val Multiple submitters SUCLA2-related disorder ⚠
  • p.Arg160Ter Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Arg284Cys Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp333Gly Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val119fs Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Likely pathogenic 17

  • p.Ser423fs Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1108-1G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-2A>G Single submitter Inborn genetic diseases
  • c.371+1G>A Single submitter SUCLA2-related disorder
  • c.91-10A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.91-3T>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala103Asp Single submitter
  • p.Arg160Gln Single submitter
  • p.Asp272His Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp333Tyr Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln389Ter Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Glu256Ter Single submitter
  • p.Gly319Arg Single submitter
  • p.Phe38fs Single submitter SUCLA2-related disorder
  • p.Tyr75Ter Single submitter SUCLA2-related disorder
  • p.Gln409Ter No assertion criteria mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Phe378fs No assertion criteria mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Conflicting classifications of pathogenicity 24

  • c.1318-15G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-13G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.372-6T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.535-13C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.664-11_664-10del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.90+6G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala450= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala85= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Arg407Leu Single submitter SUCLA2-related disorder ⚠
  • p.Arg407Trp Single submitter SUCLA2-related disorder ⚠
  • p.Asp251Asn Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asp272Val Single submitter Inborn genetic diseases ⚠
  • p.Gln100Pro Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly313Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Leu64Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Leu90Ile Single submitter Inborn genetic diseases ⚠
  • p.Lys306Gln Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Met329Val Single submitter SUCLA2-related disorder ⚠
  • p.Met5Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ser124Pro Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ser79Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr358= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr7= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val440= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Benign 47

Benign/Likely benign 8

  • c.371+9C>T Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.663+8G>T Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala170= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp263= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ile86Val Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu220= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Met271Val Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ser199Thr Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Likely benign 170

  • c.1108-59T>G Multiple submitters
  • c.1317+18A>C Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.271+146T>C Multiple submitters
  • c.271+35A>G Multiple submitters
  • c.534+104A>G Multiple submitters
  • c.964+17T>C Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-20A>C Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala12= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala27= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala3= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala416= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Arg284= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Glu445= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu314= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Lys451= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ser70= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Thr145= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr244= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr250= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val95= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1107+10G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1107+11G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1107+12G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1107+19A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1107+278G>A Single submitter
  • c.1107+7G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1108-16A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1108-19C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1108-258G>A Single submitter
  • c.1108-45T>G Single submitter
  • c.1108-4A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1108-4A>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1108-9T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1228+15T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1228+8T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1229-10del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1229-11A>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1229-124T>C Single submitter
  • c.1229-15A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1229-16C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1229-9C>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1317+12A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1317+188C>T Single submitter
  • c.1317+18A>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1317+9G>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-10T>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-11T>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-12C>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-15G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-16C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-19C>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-19C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.271+13G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.271+16A>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-10T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-140G>A Single submitter
  • c.272-17A>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-18G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-20T>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-247_272-246dup Single submitter
  • c.272-2559G>C Single submitter
  • c.272-5T>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.272-8T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.372-14T>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.372-19G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.372-7_372-6del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.372-9T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.534+106T>C Single submitter
  • c.534+20A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.534+27C>T Single submitter
  • c.534+7A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.535-116A>G Single submitter
  • c.535-11T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.663+13C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.663+14C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.663+16G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.663+324C>T Single submitter
  • c.664-159_664-156del Single submitter
  • c.664-189A>G Single submitter
  • c.664-7A>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+10C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+14T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+15T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+18G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+2968A>T Single submitter
  • c.802+84A>C Single submitter
  • c.802+8A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+9T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.803-10C>T Single submitter
  • c.803-14T>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.803-15T>C Single submitter
  • c.803-16C>T Single submitter
  • c.803-5C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.90+14del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.90+17C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.91-13C>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.91-15C>G Single submitter
  • c.91-18T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.91-267G>A Single submitter
  • c.964+28G>A Single submitter
  • c.965-13T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-17C>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-20_965-16del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-4A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-6A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-8C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.-12T>A Single submitter
  • c.*132A>G Single submitter
  • p.Ala130= Single submitter
  • p.Ala273= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala282= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala421= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Arg164= Single submitter
  • p.Arg26= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Arg300= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Arg9= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asn153= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asn310= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp209= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp298= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Cys320= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln100= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln154= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln285= Single submitter
  • p.Glu212= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Glu217= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Glu256= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly105= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly107= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly114= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly184= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly189= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gly227= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ile381= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu115= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu140= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu156= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu269= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu291= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu337= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu363= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu55= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu64= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu90= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Lys225= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Lys302= Single submitter
  • p.Lys396= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Lys417= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Lys73Asn Single submitter ⚠
  • p.Phe6= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Pro200= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Pro230Ser Single submitter
  • p.Pro403= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ser235= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ser444= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Thr23= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr311= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr75= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Tyr84= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val190= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val233= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val268= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val413= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Val455= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala330= No assertion criteria SUCLA2-related disorder
  • p.Ala343= No assertion criteria SUCLA2-related disorder
  • p.Gly339= No assertion criteria SUCLA2-related disorder
  • p.Gly340= No assertion criteria SUCLA2-related disorder
  • p.Ile334= No assertion criteria SUCLA2-related disorder
  • p.Thr331= No assertion criteria SUCLA2-related disorder

Uncertain significance 184

  • c.1228+4A>G Multiple submitters
  • c.-3_-2del Multiple submitters
  • p.Ala12Val Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ala27Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala330Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3Val Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Arg383Cys Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Arg407_Leu408del Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asn276Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp194Gly Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asp315Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys152Tyr Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Cys158Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln409= Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Gln44His Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Glu206Gly Multiple submitters Inborn genetic diseases
  • p.Glu234Gln Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Glu359Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly36Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly424Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His41Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His41Asp Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile210Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys306Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys78Gln Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Met5Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Pro230Leu Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Pro259Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser113Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser132Pro Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ser133Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser186Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser92Ala Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Thr145Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr23Met Multiple submitters Inborn genetic diseases ⚠
  • p.Trp294Arg Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val241Ile Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val348Gly Multiple submitters mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val69Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val71Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val96Met Multiple submitters Inborn genetic diseases ⚠
  • c.1228+5G>C Single submitter
  • c.1229-11A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1317+1G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.1318-1109G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.271+4C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.271+5T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.534+6T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.535-3C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.664-12T>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.664-12T>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+3A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.802+4A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.803-4A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.965-12T>C Single submitter
  • c.965-20A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.-12T>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.-48G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.-49C>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*184G>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*220C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*252C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*319A>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*331C>A Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*349C>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*380C>T Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*391A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*431G>C Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*434T>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*435A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • c.*468A>G Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ala273Thr Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ala325Thr Single submitter ⚠
  • p.Ala330Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ala352Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ala360Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala450Val Single submitter Inborn genetic diseases ⚠
  • p.Ala87Val Single submitter
  • p.Arg164Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg165Lys Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Arg383His Single submitter ⚠
  • p.Arg407Gln Single submitter ⚠
  • p.Arg412Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg438Asn Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asn18Lys Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asn191Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asn276Lys Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asn376Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp293Glu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asp367Tyr Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Asp414Asn Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asp432Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp434Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys430Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gln134Leu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gln154Glu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gln178His Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gln296Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln296Pro Single submitter ⚠
  • p.Gln460Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln46Leu Single submitter ⚠
  • p.Gln49His Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gln49Pro Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Glu174Gln Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Glu212Gly Single submitter ⚠
  • p.Glu256Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu297Gly Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Glu445Asp Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Glu62Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly114Cys Single submitter ⚠
  • p.Gly146Ala Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly146Glu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly188Asp Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly189Asp Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly324Asp Single submitter ⚠
  • p.Gly349Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly349Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly68Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly8Arg Single submitter Inborn genetic diseases
  • p.Gly8Ser Single submitter ⚠
  • p.His187Arg Single submitter Inborn genetic diseases ⚠
  • p.His56Arg Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile121Leu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile121Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile151Met Single submitter ⚠
  • p.Ile183del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ile203Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile204Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile214Thr Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile255Val Single submitter ⚠
  • p.Ile312Thr Single submitter ⚠
  • p.Ile318Thr Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile318Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile334Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile381Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ile97Val Single submitter Inborn genetic diseases ⚠
  • p.Leu10= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu156Trp Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu222Phe Single submitter ⚠
  • p.Leu269Phe Single submitter ⚠
  • p.Leu314Phe Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Leu363Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Leu371Gln Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Leu443Phe Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Leu64del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Lys129Asn Single submitter ⚠
  • p.Lys148Glu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Lys216Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys225Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys286Arg Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Lys369Asn Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Lys73Glu Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Met173Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Met1Thr Single submitter SUCLA2-related disorder
  • p.Met240Ile Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Met240Val Single submitter Inborn genetic diseases ⚠
  • p.Met254Val Single submitter ⚠
  • p.Met5Arg Single submitter Inborn genetic diseases ⚠
  • p.Met61Val Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Pro125Ser Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Pro207Arg Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Pro80= Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Ser113Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser235Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser34Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser444Pro Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Ser4Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ser70Phe Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Thr253Asn Single submitter
  • p.Tyr162His Single submitter Inborn genetic diseases ⚠
  • p.Tyr250Cys Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Tyr75Phe Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val11Ala Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val131Phe Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val155Ile Single submitter Inborn genetic diseases ⚠
  • p.Val190Gly Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val31Ala Single submitter ⚠
  • p.Val348Ala Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Val71Ile Single submitter ⚠
  • p.Val76Met Single submitter Inborn genetic diseases
  • p.Val96del Single submitter mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  • p.Asn231Ser No assertion criteria ⚠
  • p.Asp333His No assertion criteria mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ⚠
  • p.Gly137Arg No assertion criteria ⚠