Sugi Variant

Sugi Variant/SERAC1

SERAC1 — 518 ClinVar variants

All ClinVar germline SERAC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

31 Pathogenic · 9 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 22 Conflicting · 43 Benign · 19 Benign/Likely benign · 197 Likely benign · 174 Uncertain significance

Full SERAC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 115

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

Predictors split 28

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

All SERAC1 variants

Pathogenic 31

  • c.1403+1G>C Multiple submitters Possible mitochondrial disorder - nuclear genes
  • p.Arg148Ter Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg368Ter Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg447Ter Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gln376Ter Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser608Thr Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Thr147fs Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr79fs Multiple submitters Inborn genetic diseases
  • p.Val77fs Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1403+1G>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1404-2A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1828+3_1828+11del Single submitter SERAC1-related disorder
  • c.92-165C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-239G>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gln165Ter Single submitter
  • p.Gln245Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Glu209Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Glu97Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gly404Glu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.His497fs Single submitter
  • p.Ile322fs Single submitter Inborn genetic diseases
  • p.Leu233Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Lys104Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro423fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser39Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser45fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Tyr259Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val544fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu479del No assertion criteria 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu503del No assertion criteria 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro618fs No assertion criteria 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Pathogenic/Likely pathogenic 9

  • c.1167_1170del Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1822_1828+10delinsACCAACAGG Multiple submitters SERAC1-related disorder
  • p.Ala609fs Multiple submitters SERAC1-related disorder
  • p.Arg103fs Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg387Ter Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg68Ter Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gly89fs Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu550fs Multiple submitters SERAC1-related disorder
  • p.Ser498Thr Multiple submitters SERAC1-related disorder

Likely pathogenic 23

  • c.1166+2dup Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.129-1G>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1403+297_1403+298del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+2T>C Single submitter
  • c.1501+3_1501+6del Single submitter
  • c.1684+1G>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+2T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.91+1G>C Single submitter SERAC1-related disorder
  • c.91+6T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-13_92-10del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-1G>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg183Gln Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asn581fs Single submitter
  • p.Cys7Ter Single submitter mitochondrial oxidative phosphorylation disorder
  • p.Gln171Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gln302fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro533Leu Single submitter SERAC1-related neurological disorder
  • p.Ser241fs Single submitter SERAC1-related disorder
  • p.Ser531Asn Single submitter
  • p.Trp410Arg Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Trp460Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Tyr375Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val556Asp Single submitter

Conflicting classifications of pathogenicity 22

  • c.1309-19T>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1403+5C>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.487+5T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.-1A>T Single submitter Leigh syndrome
  • p.Ala394Glu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ala609Thr Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg114Gln Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg153Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg306Ter Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Cys131Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys7Trp Single submitter Inborn genetic diseases ⚠
  • p.Glu185Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu225Gly Single submitter Inborn genetic diseases ⚠
  • p.Ile34del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile420Thr Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu554Val Single submitter Inborn genetic diseases ⚠
  • p.Pro175Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser458= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr513Ala Single submitter Inborn genetic diseases ⚠
  • p.Val451fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val588fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val8Ile Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠

Benign 43

Benign/Likely benign 19

  • c.1308+17C>A Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1309-18_1309-17del Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1502-24dup Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.266-11A>G Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.487+19C>T Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.-1-10A>G Multiple submitters
  • c.*16A>G Multiple submitters
  • p.Arg306Gln Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg645Cys Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Gln385= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gly378= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile30Thr Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Met466Leu Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro21Leu Multiple submitters Inborn genetic diseases
  • p.Pro384= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser333= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser553= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr147Met Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val379= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Likely benign 197

  • c.128+206T>C Multiple submitters
  • c.128+8G>A Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.128+98A>G Multiple submitters
  • c.129-110T>C Multiple submitters
  • c.1308+7G>A Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1309-18A>G Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1403+11C>T Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1404-11G>A Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1404-175A>G Multiple submitters
  • c.1501+16A>C Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+16A>G Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+10T>C Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+168T>C Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+209T>C Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1828+10C>G Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.739-13A>G Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-16T>C Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg411= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Asn476= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Cys7= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Glu237= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile471= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro175= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr108= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Tyr430= Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1016-100G>A Single submitter
  • c.1016-206G>A Single submitter
  • c.1016-20A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1016-5A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1016-62A>G Single submitter
  • c.1166+15G>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1166+8del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1167-15T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1167-242G>C Single submitter
  • c.1167-290A>G Single submitter
  • c.128+7C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.129-31T>C Single submitter
  • c.129-9C>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.129-9C>T Single submitter
  • c.1308+100C>T Single submitter
  • c.1308+143T>A Single submitter
  • c.1308+15_1308+16dup Single submitter
  • c.1308+216T>C Single submitter
  • c.1308+43_1308+57del Single submitter
  • c.1308+60T>G Single submitter
  • c.1309-11A>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1309-136G>A Single submitter
  • c.1309-156_1309-155insAA Single submitter
  • c.1403+119G>T Single submitter
  • c.1403+15T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1404-13TTGTT[3] Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1404-174A>G Single submitter
  • c.1404-181_1404-179del Single submitter
  • c.1404-188G>A Single submitter
  • c.1404-247G>A Single submitter
  • c.1404-76T>C Single submitter
  • c.1501+118T>C Single submitter
  • c.1501+170G>C Single submitter
  • c.1501+3_1501+6dup Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+69_1501+73del Single submitter
  • c.1502-15C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1502-16C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1502-20T>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1502-216_1502-215insTTA Single submitter
  • c.1502-248A>G Single submitter
  • c.1502-272C>G Single submitter
  • c.1684+20A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+224_1684+226del Single submitter
  • c.1684+66_1684+67del Single submitter
  • c.1684+73_1684+100dup Single submitter
  • c.1684+7C>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+7C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1684+91_1684+92insTTCCTTGAATGTATTATCTTATTTTATA Single submitter
  • c.1685-125_1685-124del Single submitter
  • c.1685-12A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1685-19G>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1828+29G>A Single submitter
  • c.1829-6C>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.265+11del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.265+11T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.266-194G>A Single submitter
  • c.355+10C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.356-16T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.356-20G>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.487+12A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.487+200dup Single submitter
  • c.609+11C>T Single submitter
  • c.610-163GA[19] Single submitter
  • c.610-163GA[20] Single submitter
  • c.610-167_610-146del Single submitter
  • c.610-169_610-144del Single submitter
  • c.610-169_610-148del Single submitter
  • c.610-169T>G Single submitter
  • c.610-175_610-148del Single submitter
  • c.610-175_610-150del Single submitter
  • c.610-177T>G Single submitter
  • c.610-179_610-148del Single submitter
  • c.610-179T>G Single submitter
  • c.610-17C>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.610-191TA[10] Single submitter
  • c.610-191TA[12] Single submitter
  • c.610-191TA[13] Single submitter
  • c.738+15T>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.738+4_738+7dup Single submitter
  • c.738+7T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.738+8C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.739-127A>G Single submitter
  • c.739-15T>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.852+16A>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.852+71G>T Single submitter
  • c.852+7T>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.852+8A>C Single submitter
  • c.853-3C>T Single submitter
  • c.853-7G>A Single submitter
  • c.91+13T>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.91+14A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.91+282G>A Single submitter
  • c.91+9A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-156G>T Single submitter
  • c.92-17C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-184T>C Single submitter
  • c.92-20del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.92-244G>A Single submitter
  • c.92-257C>A Single submitter
  • c.92-383T>C Single submitter
  • c.92-468A>G Single submitter
  • c.-14C>T Single submitter
  • c.-7C>T Single submitter
  • c.*15del Single submitter
  • c.*296AG[2] Single submitter
  • p.Ala260= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ala359= Single submitter
  • p.Ala394= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ala511= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ala54= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ala565= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg138= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg368= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg387= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg490= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Arg95= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Asn295= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Asn545= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Asn87Tyr Single submitter
  • p.Gln220= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gln299= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gln570= Single submitter
  • p.Glu185= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Glu452= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Glu607= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gly24= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.His129= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.His26Arg Single submitter Inborn genetic diseases
  • p.His26Tyr Single submitter Inborn genetic diseases
  • p.His288= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.His352= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.His358= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile126Val Single submitter Inborn genetic diseases
  • p.Ile169= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile292= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile420= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile595= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu136= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu149= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu194= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu257= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu300= Single submitter
  • p.Leu304= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu363= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu46= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu502= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu509= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu61= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu616= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Lys514= Single submitter
  • p.Phe274= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Phe473= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Phe551= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro351= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Pro444= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser156= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser184= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser268= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser456= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ser537= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ter655= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr177= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr437= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr513= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr568= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val280= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val65= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val8= Single submitter
  • c.1308+8A>G No assertion criteria SERAC1-related disorder
  • c.92-245G>A No assertion criteria SERAC1-related disorder
  • p.Asn522= No assertion criteria SERAC1-related disorder
  • p.Asp62= No assertion criteria SERAC1-related disorder

Uncertain significance 174

  • c.1404-3C>G Multiple submitters Inborn genetic diseases
  • c.488-3T>G Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.738+5G>C Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ala101Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala445Asp Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg138Gln Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg138Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg190Cys Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg31Gly Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg320Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg337His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg411Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg639Pro Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg645His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg68Gln Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Cys10Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gln240Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln245Arg Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Gly15Glu Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Gly85Glu Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.His497Gln Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.His88Arg Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile179Thr Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile285Met Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile335Val Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile362Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile495Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Leu189Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu616Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met155Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met348Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro195Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro258Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser109Leu Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ser140Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser23Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser512Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser563Cys Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Thr431Met Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Thr432Met Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Thr513Met Multiple submitters 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Tyr229Cys Multiple submitters Inborn genetic diseases ⚠
  • c.1308+6G>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+4A>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+4A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+5G>A Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1501+6T>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1685-3C>T Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1828+3A>G Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.1829-10T>G Single submitter
  • c.488-4A>G Single submitter
  • c.738+1927G>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.738+9A>C Single submitter
  • c.91+2dup Single submitter
  • c.92-14_92-10del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • c.-2+10G>C Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ala110Val Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ala151Val Single submitter Inborn genetic diseases
  • p.Ala244Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala440Val Single submitter Inborn genetic diseases ⚠
  • p.Ala649Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala91Val Single submitter ⚠
  • p.Arg114Trp Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg148Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg320His Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg320Ser Single submitter ⚠
  • p.Arg337Cys Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg411His Single submitter ⚠
  • p.Arg474Gly Single submitter ⚠
  • p.Arg547His Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg639Cys Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Arg639His Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asn523del Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Asn622Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn654Lys Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asp143Glu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asp144Asn Single submitter ⚠
  • p.Asp29Glu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asp29Gly Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asp377Val Single submitter Inborn genetic diseases ⚠
  • p.Asp459Asn Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asp633fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Cys173Arg Single submitter ⚠
  • p.Cys226Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Cys311Arg Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Cys311Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Cys443Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Cys464Tyr Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Gln245Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln390Arg Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Gln642fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gln93Arg Single submitter ⚠
  • p.Glu150Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu150Val Single submitter Inborn genetic diseases ⚠
  • p.Glu293Lys Single submitter ⚠
  • p.Glu51Gly Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Glu575_Phe576insLeu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Glu575Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu589Ala Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Glu589Lys Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Glu69Gly Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gly247Arg Single submitter ⚠
  • p.Gly339Val Single submitter Inborn genetic diseases ⚠
  • p.Gly401= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Gly404Arg Single submitter ⚠
  • p.Gly404Val Single submitter Inborn genetic diseases ⚠
  • p.Gly526Glu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Gly536Val Single submitter Inborn genetic diseases ⚠
  • p.His159Tyr Single submitter Inborn genetic diseases ⚠
  • p.His288Pro Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.His308Asp Single submitter Inborn genetic diseases ⚠
  • p.His534Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile112Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile126Thr Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile279Val Single submitter Inborn genetic diseases ⚠
  • p.Ile343Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile399Val Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ile613= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Ile626Val Single submitter Inborn genetic diseases ⚠
  • p.Ile75Val Single submitter Inborn genetic diseases ⚠
  • p.Leu113Pro Single submitter Inborn genetic diseases
  • p.Leu178Phe Single submitter ⚠
  • p.Leu189Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu189Pro Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu211Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu214Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu40Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu502Arg Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu503Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu549Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu566fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Leu574Val Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Leu98Val Single submitter Inborn genetic diseases ⚠
  • p.Lys104Asn Single submitter ⚠
  • p.Lys291Glu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Lys422Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys557Arg Single submitter ⚠
  • p.Lys84Glu Single submitter Inborn genetic diseases ⚠
  • p.Met273Ile Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Met325Ile Single submitter Inborn genetic diseases ⚠
  • p.Met424Ile Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Met424Val Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Met466Val Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Met507_Leu508insMet Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Met598Thr Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Phe191Val Single submitter Inborn genetic diseases ⚠
  • p.Phe274Ser Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Phe473Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro312Leu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ser2Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser389Asn Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ser543Phe Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Ser73Thr Single submitter Inborn genetic diseases ⚠
  • p.Ter655SerextTer? Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr147Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr270Ala Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Thr370Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr388Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr455= Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Thr455Ser Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Tyr166Cys Single submitter ⚠
  • p.Tyr259Cys Single submitter
  • p.Tyr548His Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Tyr76Cys Single submitter Inborn genetic diseases ⚠
  • p.Val102Glu Single submitter Inborn genetic diseases ⚠
  • p.Val314Leu Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Val379Ile Single submitter Inborn genetic diseases ⚠
  • p.Val556Ile Single submitter Inborn genetic diseases ⚠
  • p.Val588Met Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Val606fs Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • p.Val619Met Single submitter Inborn genetic diseases ⚠
  • p.Val65Ala Single submitter 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ⚠
  • p.Asp204Tyr No assertion criteria ⚠
  • p.Asp615Asn No assertion criteria ⚠