BCAT1 — 64 ClinVar variants
All ClinVar germline BCAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Benign · 6 Likely benign · 55 Uncertain significance
Full BCAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCAT1 p.Arg163Cys Uncertain significance Single submitter
- BCAT1 p.Asn269Ile Uncertain significance Single submitter
- BCAT1 p.Asp55Gly Uncertain significance Single submitter
- BCAT1 p.Glu327Val Uncertain significance Single submitter
- BCAT1 p.Glu356Lys Uncertain significance Single submitter
- BCAT1 p.Gly14Glu Uncertain significance Single submitter
- BCAT1 p.Gly330Arg Uncertain significance Single submitter
- BCAT1 p.Gly332Ala Uncertain significance Single submitter
- BCAT1 p.Gly67Val Uncertain significance Single submitter
- BCAT1 p.Leu144Phe Uncertain significance Single submitter
- BCAT1 p.Met120Thr Uncertain significance Single submitter
- BCAT1 p.Phe264Leu Uncertain significance Single submitter
- BCAT1 p.Pro71Leu Uncertain significance Single submitter
- BCAT1 p.Ser363Arg Uncertain significance Single submitter
- BCAT1 p.Ser363Gly Uncertain significance Single submitter
- BCAT1 p.Thr128Ala Uncertain significance Single submitter
- BCAT1 p.Thr198Asn Uncertain significance Single submitter
- BCAT1 p.Thr24Ala Uncertain significance Single submitter
- BCAT1 p.Thr382Ser Uncertain significance Single submitter
- BCAT1 p.Trp267Arg Uncertain significance Single submitter
- BCAT1 p.Tyr227Cys Uncertain significance Single submitter
- BCAT1 p.Val125Leu Uncertain significance Single submitter
- BCAT1 p.Val131Ile Uncertain significance Single submitter
- BCAT1 p.Val384Leu Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- BCAT1 p.Ala27Thr Uncertain significance Single submitter
- BCAT1 p.Ala298Thr Uncertain significance Single submitter
- BCAT1 p.Arg122Cys Uncertain significance Single submitter
- BCAT1 p.Arg326Gly Uncertain significance Single submitter
- BCAT1 p.Arg364Cys Uncertain significance Single submitter
- BCAT1 p.Asn116Ser Uncertain significance Single submitter
- BCAT1 p.Cys8Arg Uncertain significance Single submitter
- BCAT1 p.Glu136Lys Uncertain significance Single submitter
- BCAT1 p.Glu61Ala Uncertain significance Single submitter
- BCAT1 p.Gly216Ser Uncertain significance Single submitter
- BCAT1 p.Gly219Ala Uncertain significance Single submitter
- BCAT1 p.Gly228Ser Uncertain significance Single submitter
- BCAT1 p.His72Arg Uncertain significance Single submitter
- BCAT1 p.His82Tyr Uncertain significance Single submitter
- BCAT1 p.His89Tyr Uncertain significance Single submitter
- BCAT1 p.Ile167Phe Uncertain significance Single submitter
- BCAT1 p.Ile284Asn Uncertain significance Single submitter
- BCAT1 p.Ile294Leu Uncertain significance Single submitter
- BCAT1 p.Leu183Phe Uncertain significance Single submitter
- BCAT1 p.Lys146Thr Uncertain significance Single submitter
- BCAT1 p.Lys180Asn Uncertain significance Single submitter
- BCAT1 p.Met355Thr Uncertain significance Single submitter
- BCAT1 p.Pro208Ser Uncertain significance Single submitter
- BCAT1 p.Pro34Ala Uncertain significance Single submitter
- BCAT1 p.Thr165Ala Uncertain significance Single submitter
- BCAT1 p.Val185Ala Uncertain significance Single submitter
-
BCAT1 p.Thr59Met
Likely benign
No assertion criteria
BCAT1-related disorder
All BCAT1 variants
Benign 3
Likely benign 6
- p.Glu321= Single submitter
- p.Lys19= Single submitter
- p.Glu348Lys No assertion criteria BCAT1-related disorder
- p.Leu344= No assertion criteria BCAT1-related disorder
- p.Thr59Met No assertion criteria BCAT1-related disorder ⚠
- p.Tyr374= No assertion criteria BCAT1-related disorder
Uncertain significance 55
- c.7-1070G>A Single submitter
- c.7-1075C>T Single submitter
- c.7-1078C>T Single submitter
- c.7-1082G>T Single submitter
- c.7-1091C>T Single submitter
- p.Ala27Thr Single submitter ⚠
- p.Ala298Thr Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Arg326Gly Single submitter ⚠
- p.Arg364Cys Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asn269Ile Single submitter ⚠
- p.Asp55Gly Single submitter ⚠
- p.Cys8Arg Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Glu327Val Single submitter ⚠
- p.Glu356Lys Single submitter ⚠
- p.Glu61Ala Single submitter ⚠
- p.Gly14Glu Single submitter ⚠
- p.Gly216Ser Single submitter ⚠
- p.Gly219Ala Single submitter ⚠
- p.Gly228Ser Single submitter ⚠
- p.Gly330Arg Single submitter ⚠
- p.Gly332Ala Single submitter ⚠
- p.Gly67Val Single submitter ⚠
- p.His72Arg Single submitter ⚠
- p.His82Tyr Single submitter ⚠
- p.His89Tyr Single submitter ⚠
- p.Ile167Phe Single submitter ⚠
- p.Ile284Asn Single submitter ⚠
- p.Ile294Leu Single submitter ⚠
- p.Leu144Phe Single submitter ⚠
- p.Leu183Phe Single submitter ⚠
- p.Lys146Thr Single submitter ⚠
- p.Lys180Asn Single submitter ⚠
- p.Met120Thr Single submitter ⚠
- p.Met355Thr Single submitter ⚠
- p.Phe264Leu Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro34Ala Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Ser363Arg Single submitter ⚠
- p.Ser363Gly Single submitter ⚠
- p.Thr128Ala Single submitter ⚠
- p.Thr165Ala Single submitter ⚠
- p.Thr198Asn Single submitter ⚠
- p.Thr24Ala Single submitter ⚠
- p.Thr382Ser Single submitter ⚠
- p.Trp267Arg Single submitter ⚠
- p.Tyr227Cys Single submitter ⚠
- p.Val125Leu Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val185Ala Single submitter ⚠
- p.Val384Leu Single submitter ⚠