Sugi Variant

Sugi Variant/SUCLG1

SUCLG1 — 362 ClinVar variants

All ClinVar germline SUCLG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

21 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 21 Conflicting · 27 Benign · 8 Benign/Likely benign · 137 Likely benign · 137 Uncertain significance

Full SUCLG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 13

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

Predictors lean, ClinVar uncertain 87

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

Predictors split 30

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

All SUCLG1 variants

Pathogenic 21

  • p.Ala209Glu Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.201+1G>T Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg154Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg195fs Single submitter mitochondrial DNA depletion syndrome 9
  • p.Asn130fs Single submitter mitochondrial DNA depletion syndrome 9
  • p.Asn171fs Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gln149Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gln215Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gln272Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gln67Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gln74Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Glu313Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ser279fs Single submitter mitochondrial DNA depletion syndrome 9
  • p.Val153Glu Single submitter mitochondrial DNA depletion syndrome 9
  • p.Val153Ter Single submitter mitochondrial DNA depletion syndrome 9
  • c.97+3G>C No assertion criteria mitochondrial DNA depletion syndrome 9
  • p.Gln150Ter No assertion criteria mitochondrial DNA depletion syndrome 9
  • p.Gly85Ala No assertion criteria mitochondrial DNA depletion syndrome 9
  • p.Ile242fs No assertion criteria mitochondrial DNA depletion syndrome 9
  • p.Pro170Arg No assertion criteria mitochondrial DNA depletion syndrome 9
  • p.Tyr51fs No assertion criteria mitochondrial DNA depletion syndrome 9

Pathogenic/Likely pathogenic 1

  • p.Lys57fs Multiple submitters SUCLG1-related disorder

Likely pathogenic 10

  • c.825+1G>A Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.319-1G>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.673+1G>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.826-1G>A Single submitter mitochondrial DNA depletion syndrome 9
  • p.Glu263Lys Single submitter mitochondrial DNA depletion syndrome 9
  • p.Glu264Ter Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gly259Asp Single submitter
  • p.Met14Thr Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Ser284Phe Single submitter
  • p.Thr80Pro Single submitter

Conflicting classifications of pathogenicity 21

  • c.201+8T>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-8T>C Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala115= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala128= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala132Gly Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Ala300= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg29= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg39Gln Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Glu241Lys Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Glu263Gly Single submitter SUCLG1-related disorder ⚠
  • p.Gly37Ala Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Gly79Asp Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Ile168Val Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Ile183Thr Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Ile38Thr Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Leu240Arg Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Met14Leu Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Met14Val Single submitter Inborn genetic diseases ⚠
  • p.Phe101Cys Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Ser46Phe Single submitter mitochondrial DNA depletion syndrome 9 ⚠
  • p.Val224Ile Single submitter Inborn genetic diseases ⚠

Benign 27

Benign/Likely benign 8

  • c.201+9A>G Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.531+9dup Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.590-7C>T Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.825+18A>G Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.*207A>G Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Ala209= Multiple submitters
  • p.Gly97= Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Thr103= Multiple submitters mitochondrial DNA depletion syndrome 9

Likely benign 137

  • c.202-12T>A Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.202-65G>C Multiple submitters
  • c.318+107T>C Multiple submitters
  • c.319-13G>A Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.532-12_532-10del Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.590-6G>A Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.673+19A>C Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.826-13_826-10del Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.826-8del Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.97+17C>T Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.97+60A>G Multiple submitters
  • c.98-17_98-11del Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.-536A>C Multiple submitters
  • p.Ala305= Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Asp53= Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Glu134= Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Lys81Arg Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Pro34= Multiple submitters mitochondrial DNA depletion syndrome 9
  • p.Tyr78= Multiple submitters mitochondrial DNA depletion syndrome 9
  • c.1014+12C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.1015-14T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.1015-15C>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.1015-18T>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.1015-23CT[6] Single submitter mitochondrial DNA depletion syndrome 9
  • c.1015-6C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.201+16T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.201+20T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.202-13T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.202-14C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.202-18T>C Single submitter
  • c.202-8C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.318+11G>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.318+174G>T Single submitter
  • c.318+17G>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.318+197G>A Single submitter
  • c.318+19G>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.318+233G>A Single submitter
  • c.318+9T>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-16G>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-16G>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-17C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-18T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-20C>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.319-4T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.531+15A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.531+19A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.531+7G>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.532-11A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.532-14A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.532-15T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.532-17A>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.532-31dup Single submitter
  • c.532-4T>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.589+12_589+15del Single submitter mitochondrial DNA depletion syndrome 9
  • c.589+14T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.589+17C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.589+17del Single submitter mitochondrial DNA depletion syndrome 9
  • c.589+219G>A Single submitter
  • c.590-11C>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.590-16A>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.590-17A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.590-18G>T Single submitter mitochondrial DNA depletion syndrome 9
  • c.590-8T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.673+14G>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.673+19A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.674-18A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.825+14T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.826-13A>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.826-15T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.826-5T>C Single submitter mitochondrial DNA depletion syndrome 9
  • c.97+12C>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.97+9A>G Single submitter
  • c.98-18T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.98-19T>G Single submitter mitochondrial DNA depletion syndrome 9
  • c.98-24_98-11del Single submitter mitochondrial DNA depletion syndrome 9
  • c.98-25_98-11del Single submitter mitochondrial DNA depletion syndrome 9
  • c.98-6T>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.98-8C>A Single submitter mitochondrial DNA depletion syndrome 9
  • c.-15G>A Single submitter
  • c.*55G>C Single submitter
  • p.Ala135= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala22= Single submitter
  • p.Ala23= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala267= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala287= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala330= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala6= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala7= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ala8= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg161= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg25= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Arg296= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Asn245= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Cys223= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Cys60= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Glu145= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gly174= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gly227= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Gly68= Single submitter
  • p.His189= Single submitter mitochondrial DNA depletion syndrome 9
  • p.His211= Single submitter mitochondrial DNA depletion syndrome 9
  • p.His273= Single submitter
  • p.His40Arg Single submitter mitochondrial DNA depletion syndrome 9
  • p.His95= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ile237Thr Single submitter
  • p.Leu167= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu205= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu21= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu218= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu222= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu240= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu254= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu5= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Leu82= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Lys312= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Pro122= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Pro123= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Pro148= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Pro173= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Pro88= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ser116= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ser16= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ser279= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Ser30= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr114= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr213= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr335= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr4= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr44= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr69= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Thr80= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Tyr51= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Val15= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Val155= Single submitter
  • p.Val283= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Val323= Single submitter mitochondrial DNA depletion syndrome 9
  • p.Val325= Single submitter mitochondrial DNA depletion syndrome 9

Uncertain significance 137