GOT2 — 153 ClinVar variants
All ClinVar germline GOT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
4 Likely pathogenic · 2 Conflicting · 18 Benign · 3 Benign/Likely benign · 50 Likely benign · 76 Uncertain significance
Full GOT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GOT2 p.Ala89Ser
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 82
- GOT2 p.Arg325Gln Uncertain significance Multiple submitters
-
GOT2 p.Asp190Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 82
-
GOT2 p.Asp197Asn
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 82
- GOT2 p.Gln357Glu Uncertain significance Multiple submitters
- GOT2 p.Gln372Arg Uncertain significance Multiple submitters
-
GOT2 p.Leu362Phe
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 82
- GOT2 p.Val76Ile Uncertain significance Multiple submitters
- GOT2 p.Ala240Val Uncertain significance Single submitter
- GOT2 p.Ala298Gly Uncertain significance Single submitter
- GOT2 p.Ala298Val Uncertain significance Single submitter
- GOT2 p.Ala88Ser Uncertain significance Single submitter
- GOT2 p.Arg125Trp Uncertain significance Single submitter
- GOT2 p.Arg303Lys Uncertain significance Single submitter
-
GOT2 p.Arg350Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 82
- GOT2 p.Arg350His Uncertain significance Single submitter
- GOT2 p.Arg68Gln Uncertain significance Single submitter
- GOT2 p.Asn361Ser Uncertain significance Single submitter
- GOT2 p.Asp243His Uncertain significance Single submitter
- GOT2 p.Asp297Tyr Uncertain significance Single submitter
- GOT2 p.Asp376Asn Uncertain significance Single submitter
- GOT2 p.Asp405Gly Uncertain significance Single submitter
- GOT2 p.Gln204His Uncertain significance Single submitter
- GOT2 p.Gln377His Uncertain significance Single submitter
- GOT2 p.Glu266Gln Uncertain significance Single submitter
- GOT2 p.Glu365Ala Uncertain significance Single submitter
-
GOT2 p.Gly419Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 82
- GOT2 p.Ile265Met Uncertain significance Single submitter
- GOT2 p.Ile330Val Uncertain significance Single submitter
- GOT2 p.Ile87Met Uncertain significance Single submitter
- GOT2 p.Ile87Thr Uncertain significance Single submitter
- GOT2 p.Leu10Phe Uncertain significance Single submitter
- GOT2 p.Leu308Phe Uncertain significance Single submitter
- GOT2 p.Leu92Val Uncertain significance Single submitter
- GOT2 p.Lys73Arg Uncertain significance Single submitter
- GOT2 p.Met315Val Uncertain significance Single submitter
- GOT2 p.Phe144Cys Uncertain significance Single submitter
- GOT2 p.Phe156Tyr Uncertain significance Single submitter
- GOT2 p.Phe169Ile Uncertain significance Single submitter
-
GOT2 p.Phe241Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 82
- GOT2 p.Phe242Leu Uncertain significance Single submitter
- GOT2 p.Pro160Ser Uncertain significance Single submitter
- GOT2 p.Pro19Ser Uncertain significance Single submitter
- GOT2 p.Ser152Asn Uncertain significance Single submitter
- GOT2 p.Thr131Ala Uncertain significance Single submitter
- GOT2 p.Thr192Pro Uncertain significance Single submitter
- GOT2 p.Thr217Lys Uncertain significance Single submitter
- GOT2 p.Thr231Ser Uncertain significance Single submitter
- GOT2 p.Thr292Ser Uncertain significance Single submitter
- GOT2 p.Thr384Ile Uncertain significance Single submitter
- GOT2 p.Tyr284His Uncertain significance Single submitter
- GOT2 p.Val195Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- GOT2 p.Arg222His Benign Multiple submitters
-
GOT2 p.Pro78Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 82
- GOT2 p.Ala27Asp Uncertain significance Single submitter
- GOT2 p.Ala83Ser Uncertain significance Single submitter
- GOT2 p.Arg180Gln Uncertain significance Single submitter
- GOT2 p.Arg28Gly Uncertain significance Single submitter
- GOT2 p.Arg393Trp Likely benign Single submitter
- GOT2 p.Arg53Trp Uncertain significance Single submitter
- GOT2 p.Arg81Cys Uncertain significance Single submitter
- GOT2 p.Arg81His Uncertain significance Single submitter
- GOT2 p.Glu111Asp Uncertain significance Single submitter
- GOT2 p.Glu224Lys Uncertain significance Single submitter
- GOT2 p.Glu300Asp Uncertain significance Single submitter
- GOT2 p.Glu49Asp Uncertain significance Single submitter
- GOT2 p.Gly268Asp Uncertain significance Single submitter
- GOT2 p.Ile201Thr Uncertain significance Single submitter
- GOT2 p.Pro221Leu Uncertain significance Single submitter
- GOT2 p.Ser415Cys Uncertain significance Single submitter
- GOT2 p.Tyr75His Uncertain significance Single submitter
- GOT2 p.Val418Met Uncertain significance Single submitter
- GOT2 p.Val80Ile Uncertain significance Single submitter
All GOT2 variants
Likely pathogenic 4
- p.Arg262Gly Multiple submitters developmental and epileptic encephalopathy
- p.Gly366Val Multiple submitters developmental and epileptic encephalopathy
- p.Arg337Gly Single submitter developmental and epileptic encephalopathy
- p.Leu209del Single submitter developmental and epileptic encephalopathy
Conflicting classifications of pathogenicity 2
- p.Arg393Gln Single submitter ⚠
- p.Arg68Trp Single submitter ⚠
Benign 18
- c.853+16C>T Multiple submitters
- p.Ala2Ser Multiple submitters
- p.Arg222His Multiple submitters ⚠
- p.Asn71= Multiple submitters developmental and epileptic encephalopathy, 82
- p.Asp154Asn Multiple submitters
- p.Cys272= Multiple submitters developmental and epileptic encephalopathy, 82
- p.Gly188Ser Multiple submitters
- p.Ser118= Multiple submitters
- p.Ser416= Multiple submitters
- p.Tyr67= Multiple submitters
- p.Val346Gly Multiple submitters developmental and epileptic encephalopathy, 82
- p.Val76= Multiple submitters developmental and epileptic encephalopathy, 82
- c.1171-8C>G Single submitter
- c.436-3del Single submitter
- c.702+19C>G Single submitter
- p.Ala324= Single submitter
- p.Lys364Glu Single submitter
- p.Thr375= Single submitter
Benign/Likely benign 3
- c.1020-15A>G Multiple submitters
- c.597+18G>A Multiple submitters
- p.Asn117= Multiple submitters
Likely benign 50
- c.89+5G>A Multiple submitters
- p.Ala16Gly Multiple submitters
- p.Ala2= Multiple submitters
- p.Ala88= Multiple submitters
- c.1019+17del Single submitter
- c.1020-13G>A Single submitter
- c.1020-14G>A Single submitter
- c.1170+10T>G Single submitter
- c.1171-15C>A Single submitter
- c.1171-17T>G Single submitter
- c.247-19T>G Single submitter
- c.247-20A>G Single submitter
- c.376-19G>A Single submitter
- c.376-20C>T Single submitter
- c.435+10G>A Single submitter
- c.435+17C>G Single submitter
- c.435+3G>A Single submitter
- c.436-14G>A Single submitter
- c.597+19G>A Single submitter
- c.702+10A>G Single submitter
- c.702+10A>T Single submitter
- c.703-20G>A Single submitter
- c.703-9C>T Single submitter
- c.90-4T>A Single submitter
- p.Ala108= Single submitter
- p.Ala240= Single submitter
- p.Arg393Trp Single submitter ⚠
- p.Arg68= Single submitter
- p.Asn370= Single submitter
- p.Asn417= Single submitter
- p.Asp243= Single submitter
- p.Gly12= Single submitter
- p.Gly124= Single submitter
- p.Gly193= Single submitter
- p.His426= Single submitter
- p.Leu176= Single submitter
- p.Leu21= Single submitter
- p.Leu362= Single submitter
- p.Leu394= Single submitter
- p.Pro19= Single submitter
- p.Pro202= Single submitter
- p.Pro78= Single submitter
- p.Ser133= Single submitter
- p.Ser31= Single submitter
- p.Ser6= Single submitter
- p.Thr217= Single submitter
- p.Thr333Ser Single submitter
- p.Tyr246= Single submitter
- p.Val219= Single submitter
- p.Val413= Single submitter
Uncertain significance 76
- p.Ala89Ser Multiple submitters developmental and epileptic encephalopathy, 82 ⚠
- p.Arg325Gln Multiple submitters ⚠
- p.Asp190Val Multiple submitters developmental and epileptic encephalopathy, 82 ⚠
- p.Asp197Asn Multiple submitters developmental and epileptic encephalopathy, 82 ⚠
- p.Gln357Glu Multiple submitters ⚠
- p.Gln372Arg Multiple submitters ⚠
- p.Leu362Phe Multiple submitters developmental and epileptic encephalopathy, 82 ⚠
- p.Pro78Leu Multiple submitters developmental and epileptic encephalopathy, 82 ⚠
- p.Val294Leu Multiple submitters developmental and epileptic encephalopathy, 82
- p.Val76Ile Multiple submitters ⚠
- p.Ala230Val Single submitter
- p.Ala240Val Single submitter ⚠
- p.Ala27Asp Single submitter ⚠
- p.Ala298Gly Single submitter ⚠
- p.Ala298Val Single submitter ⚠
- p.Ala83Ser Single submitter ⚠
- p.Ala88Ser Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg28Gly Single submitter ⚠
- p.Arg303Lys Single submitter ⚠
- p.Arg350Cys Single submitter developmental and epileptic encephalopathy, 82 ⚠
- p.Arg350His Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Arg81Cys Single submitter ⚠
- p.Arg81His Single submitter ⚠
- p.Asn361Ser Single submitter ⚠
- p.Asn91fs Single submitter
- p.Asp243His Single submitter ⚠
- p.Asp297Tyr Single submitter ⚠
- p.Asp376Asn Single submitter ⚠
- p.Asp405Gly Single submitter ⚠
- p.Gln204His Single submitter ⚠
- p.Gln377His Single submitter ⚠
- p.Gln390= Single submitter
- p.Glu111Asp Single submitter ⚠
- p.Glu224Lys Single submitter ⚠
- p.Glu266Gln Single submitter ⚠
- p.Glu300Asp Single submitter ⚠
- p.Glu365Ala Single submitter ⚠
- p.Glu49Asp Single submitter ⚠
- p.Gly268Asp Single submitter ⚠
- p.Gly419Asp Single submitter developmental and epileptic encephalopathy, 82 ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile265Met Single submitter ⚠
- p.Ile330Val Single submitter ⚠
- p.Ile87Met Single submitter ⚠
- p.Ile87Thr Single submitter ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu308Phe Single submitter ⚠
- p.Leu92Val Single submitter ⚠
- p.Lys200Ile Single submitter
- p.Lys73Arg Single submitter ⚠
- p.Met315Val Single submitter ⚠
- p.Phe144Cys Single submitter ⚠
- p.Phe156Tyr Single submitter ⚠
- p.Phe169Ile Single submitter ⚠
- p.Phe241Cys Single submitter developmental and epileptic encephalopathy, 82 ⚠
- p.Phe242Leu Single submitter ⚠
- p.Pro160Ser Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Ser152Asn Single submitter ⚠
- p.Ser415Cys Single submitter ⚠
- p.Thr131Ala Single submitter ⚠
- p.Thr192Pro Single submitter ⚠
- p.Thr217Lys Single submitter ⚠
- p.Thr231Ser Single submitter ⚠
- p.Thr292Ser Single submitter ⚠
- p.Thr384Ile Single submitter ⚠
- p.Tyr284His Single submitter ⚠
- p.Tyr75His Single submitter ⚠
- p.Val195Ala Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val80Ile Single submitter ⚠