GOT1 — 53 ClinVar variants
All ClinVar germline GOT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Pathogenic · 2 Benign · 1 Benign/Likely benign · 3 Likely benign · 46 Uncertain significance
Full GOT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GOT1 p.Ala121Val Uncertain significance Single submitter
- GOT1 p.Ala304Thr Uncertain significance Single submitter
- GOT1 p.Arg122His Uncertain significance Single submitter
- GOT1 p.Arg122Ser Uncertain significance Single submitter
- GOT1 p.Asn128Asp Uncertain significance Single submitter
- GOT1 p.Asn35Tyr Uncertain significance Single submitter
- GOT1 p.Asn367Lys Uncertain significance Single submitter
- GOT1 p.Glu179Ala Uncertain significance Single submitter
- GOT1 p.Glu277Gln Uncertain significance Single submitter
- GOT1 p.Glu315Asp Uncertain significance Single submitter
- GOT1 p.Glu58Gln Uncertain significance Single submitter
- GOT1 p.His353Tyr Uncertain significance Single submitter
- GOT1 p.Ile199Met Uncertain significance Single submitter
- GOT1 p.Ile74Val Uncertain significance Single submitter
- GOT1 p.Leu72Met Uncertain significance Single submitter
- GOT1 p.Lys346Glu Uncertain significance Single submitter
- GOT1 p.Lys60Asn Uncertain significance Single submitter
- GOT1 p.Met213Ile Uncertain significance Single submitter
- GOT1 p.Phe257Val Uncertain significance Single submitter
- GOT1 p.Pro133Ser Uncertain significance Single submitter
- GOT1 p.Pro15Leu Uncertain significance Single submitter
- GOT1 p.Pro278Ser Uncertain significance Single submitter
- GOT1 p.Pro314Ser Uncertain significance Single submitter
- GOT1 p.Ser138Ala Uncertain significance Single submitter
- GOT1 p.Ser158Phe Uncertain significance Single submitter
- GOT1 p.Ser211Ala Uncertain significance Single submitter
- GOT1 p.Thr350Ser Uncertain significance Single submitter
- GOT1 p.Tyr41Cys Uncertain significance Single submitter
- GOT1 p.Val16Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- GOT1 p.Glu183Gly Benign Multiple submitters
- GOT1 p.Ala151Thr Uncertain significance Single submitter
- GOT1 p.Arg122Cys Uncertain significance Single submitter
- GOT1 p.Arg216Gln Uncertain significance Single submitter
- GOT1 p.Arg305Gln Uncertain significance Single submitter
- GOT1 p.Arg86Cys Uncertain significance Single submitter
- GOT1 p.Arg86His Uncertain significance Single submitter
- GOT1 p.Asp30Glu Uncertain significance Single submitter
- GOT1 p.Ile291Thr Uncertain significance Single submitter
- GOT1 p.Ile405Phe Uncertain significance Single submitter
- GOT1 p.Met334Val Uncertain significance Single submitter
- GOT1 p.Ser66Arg Uncertain significance Single submitter
- GOT1 p.Val273Met Uncertain significance Single submitter
- GOT1 p.Val292Met Uncertain significance Single submitter
- GOT1 p.Val409Leu Uncertain significance Single submitter
-
GOT1 p.Arg160His
Likely benign
No assertion criteria
GOT1-related disorder
All GOT1 variants
Pathogenic 1
- p.Asn389del No assertion criteria ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Benign 2
- p.Glu183Gly Multiple submitters ⚠
- p.Ala121= No assertion criteria GOT1-related disorder
Benign/Likely benign 1
- c.643-5C>T Multiple submitters
Likely benign 3
- p.Asn65Ser Single submitter
- p.Arg160His No assertion criteria GOT1-related disorder ⚠
- p.His190= No assertion criteria GOT1-related disorder
Uncertain significance 46
- p.Ala121Val Single submitter ⚠
- p.Ala13Val Single submitter
- p.Ala151Thr Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg122His Single submitter ⚠
- p.Arg122Ser Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg267fs Single submitter
- p.Arg305Gln Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Asn128Asp Single submitter ⚠
- p.Asn35Tyr Single submitter ⚠
- p.Asn367Lys Single submitter ⚠
- p.Asp24Tyr Single submitter
- p.Asp30Glu Single submitter ⚠
- p.Glu179Ala Single submitter ⚠
- p.Glu277Gln Single submitter ⚠
- p.Glu315Asp Single submitter ⚠
- p.Glu58Gln Single submitter ⚠
- p.His353Tyr Single submitter ⚠
- p.Ile199Met Single submitter ⚠
- p.Ile291Thr Single submitter ⚠
- p.Ile405Phe Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Leu72Met Single submitter ⚠
- p.Lys346Glu Single submitter ⚠
- p.Lys60Asn Single submitter ⚠
- p.Met213Ile Single submitter ⚠
- p.Met334Val Single submitter ⚠
- p.Phe257Val Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro278Ser Single submitter ⚠
- p.Pro314Ser Single submitter ⚠
- p.Ser138Ala Single submitter ⚠
- p.Ser158Phe Single submitter ⚠
- p.Ser211Ala Single submitter ⚠
- p.Ser66Arg Single submitter ⚠
- p.Thr350Ser Single submitter ⚠
- p.Tyr41Cys Single submitter ⚠
- p.Val16Ile Single submitter ⚠
- p.Val273Met Single submitter ⚠
- p.Val292Met Single submitter ⚠
- p.Val409Leu Single submitter ⚠