SOAT1 — 69 ClinVar variants
All ClinVar germline SOAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
4 Benign · 4 Likely benign · 61 Uncertain significance
Full SOAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SOAT1 p.Ala328Thr Uncertain significance Single submitter
- SOAT1 p.Ala432Val Uncertain significance Single submitter
- SOAT1 p.Arg219Cys Uncertain significance Single submitter
- SOAT1 p.Arg494Trp Uncertain significance Single submitter
- SOAT1 p.Arg540Trp Uncertain significance Single submitter
- SOAT1 p.Arg547Cys Uncertain significance Single submitter
- SOAT1 p.Arg547His Uncertain significance Single submitter
- SOAT1 p.Asp160Gly Uncertain significance Single submitter
- SOAT1 p.Gln118Lys Uncertain significance Single submitter
- SOAT1 p.Glu259Lys Uncertain significance Single submitter
- SOAT1 p.Glu394Val Uncertain significance Single submitter
- SOAT1 p.Gly3Ser Uncertain significance Single submitter
- SOAT1 p.His107Arg Uncertain significance Single submitter
- SOAT1 p.Ile150Leu Uncertain significance Single submitter
- SOAT1 p.Ile44Val Uncertain significance Single submitter
- SOAT1 p.Ile489Val Uncertain significance Single submitter
- SOAT1 p.Ile52Thr Uncertain significance Single submitter
- SOAT1 p.Leu279Pro Uncertain significance Single submitter
- SOAT1 p.Leu375Pro Uncertain significance Single submitter
- SOAT1 p.Leu437Val Uncertain significance Single submitter
- SOAT1 p.Leu9Val Uncertain significance Single submitter
- SOAT1 p.Lys104Arg Uncertain significance Single submitter
- SOAT1 p.Lys495Glu Uncertain significance Single submitter
- SOAT1 p.Lys6Asn Uncertain significance Single submitter
- SOAT1 p.Met228Thr Uncertain significance Single submitter
- SOAT1 p.Met265Thr Uncertain significance Single submitter
- SOAT1 p.Met325Val Uncertain significance Single submitter
- SOAT1 p.Met395Thr Uncertain significance Single submitter
- SOAT1 p.Met480Val Uncertain significance Single submitter
- SOAT1 p.Phe263Ser Uncertain significance Single submitter
- SOAT1 p.Phe471Ser Uncertain significance Single submitter
- SOAT1 p.Pro216Leu Uncertain significance Single submitter
- SOAT1 p.Pro290Leu Uncertain significance Single submitter
- SOAT1 p.Pro29Ser Uncertain significance Single submitter
- SOAT1 p.Ser194Cys Uncertain significance Single submitter
- SOAT1 p.Ser286Leu Uncertain significance Single submitter
- SOAT1 p.Ser33Thr Uncertain significance Single submitter
- SOAT1 p.Ser456Pro Uncertain significance Single submitter
- SOAT1 p.Ser86Thr Uncertain significance Single submitter
- SOAT1 p.Thr305Ile Uncertain significance Single submitter
- SOAT1 p.Trp186Gly Uncertain significance Single submitter
- SOAT1 p.Tyr161Cys Uncertain significance Single submitter
- SOAT1 p.Tyr308Cys Uncertain significance Single submitter
- SOAT1 p.Tyr417Asp Uncertain significance Single submitter
- SOAT1 p.Tyr431Cys Uncertain significance Single submitter
- SOAT1 p.Tyr518His Uncertain significance Single submitter
- SOAT1 p.Val242Ile Uncertain significance Single submitter
- SOAT1 p.Val275Met Uncertain significance Single submitter
- SOAT1 p.Val278Ile Uncertain significance Single submitter
- SOAT1 p.Val361Ile Uncertain significance Single submitter
- SOAT1 p.Val458Ile Uncertain significance Single submitter
- SOAT1 p.Val477Met Uncertain significance Single submitter
- SOAT1 p.Val549Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- SOAT1 p.Ala251Ser Uncertain significance Single submitter
- SOAT1 p.Arg12Trp Uncertain significance Single submitter
- SOAT1 p.Arg343Ser Uncertain significance Single submitter
- SOAT1 p.Phe192Leu Uncertain significance Single submitter
- SOAT1 p.Thr293Ala Uncertain significance Single submitter
- SOAT1 p.Val184Ile Uncertain significance Single submitter
All SOAT1 variants
Benign 4
- p.Gln204Glu Multiple submitters
- p.Leu193= Multiple submitters
- p.Lys285= Multiple submitters
- p.Pro216= Multiple submitters
Likely benign 4
- p.Arg219His Single submitter
- p.Glu35= Single submitter
- p.Lys31Glu Single submitter
- p.Val264Ile Single submitter
Uncertain significance 61
- p.Ala251Ser Single submitter ⚠
- p.Ala328Thr Single submitter ⚠
- p.Ala432Val Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg343Ser Single submitter ⚠
- p.Arg494Trp Single submitter ⚠
- p.Arg540Trp Single submitter ⚠
- p.Arg542Cys Single submitter
- p.Arg547Cys Single submitter ⚠
- p.Arg547His Single submitter ⚠
- p.Asp160Gly Single submitter ⚠
- p.Cys467Phe Single submitter
- p.Gln118Lys Single submitter ⚠
- p.Glu259Lys Single submitter ⚠
- p.Glu394Val Single submitter ⚠
- p.Gly3Ser Single submitter ⚠
- p.His107Arg Single submitter ⚠
- p.Ile150Leu Single submitter ⚠
- p.Ile44Val Single submitter ⚠
- p.Ile489Val Single submitter ⚠
- p.Ile52Thr Single submitter ⚠
- p.Leu279Pro Single submitter ⚠
- p.Leu375Pro Single submitter ⚠
- p.Leu437Val Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys104Arg Single submitter ⚠
- p.Lys495Glu Single submitter ⚠
- p.Lys6Asn Single submitter ⚠
- p.Met228Thr Single submitter ⚠
- p.Met265Thr Single submitter ⚠
- p.Met325Val Single submitter ⚠
- p.Met395Thr Single submitter ⚠
- p.Met480Val Single submitter ⚠
- p.Phe192Leu Single submitter ⚠
- p.Phe263Ser Single submitter ⚠
- p.Phe471Ser Single submitter ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro290Leu Single submitter ⚠
- p.Pro29Ser Single submitter ⚠
- p.Ser194Cys Single submitter ⚠
- p.Ser286Leu Single submitter ⚠
- p.Ser33Thr Single submitter ⚠
- p.Ser456Pro Single submitter ⚠
- p.Ser86Thr Single submitter ⚠
- p.Thr293Ala Single submitter ⚠
- p.Thr305Ile Single submitter ⚠
- p.Trp186Gly Single submitter ⚠
- p.Tyr161Cys Single submitter ⚠
- p.Tyr308Cys Single submitter ⚠
- p.Tyr417Asp Single submitter ⚠
- p.Tyr431Cys Single submitter ⚠
- p.Tyr518His Single submitter ⚠
- p.Val184Ile Single submitter ⚠
- p.Val242Ile Single submitter ⚠
- p.Val275Met Single submitter ⚠
- p.Val278Ile Single submitter ⚠
- p.Val361Ile Single submitter ⚠
- p.Val458Ile Single submitter ⚠
- p.Val477Met Single submitter ⚠
- p.Val549Met Single submitter ⚠