SOAT2 — 89 ClinVar variants

All ClinVar germline SOAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

3 Benign · 10 Likely benign · 76 Uncertain significance

Full SOAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 50

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

Predictors split 21

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

All SOAT2 variants

Benign 3

p.Ala67= Multiple submitters
p.Leu402= Multiple submitters
p.Arg417Gln Single submitter

Likely benign 10

p.Ala180Val Single submitter
p.Ala56Val Single submitter
p.Arg20Gln Single submitter
p.Arg22His Single submitter
p.Arg256Cys Single submitter
p.Arg259Gly Single submitter
p.Arg66Gln Single submitter
p.Gly17Arg Single submitter
p.Leu16Pro Single submitter
p.Val421Ala Single submitter

Uncertain significance 76

p.Ala205Pro Single submitter ⚠
p.Ala265Thr Single submitter ⚠
p.Ala302Gly Single submitter ⚠
p.Ala335Thr Single submitter ⚠
p.Ala343Gly Single submitter ⚠
p.Ala357Asp Single submitter ⚠
p.Ala472Val Single submitter ⚠
p.Ala56Pro Single submitter ⚠
p.Arg121Cys Single submitter ⚠
p.Arg186Gln Single submitter ⚠
p.Arg334His Single submitter ⚠
p.Arg379Gln Single submitter ⚠
p.Arg379Trp Single submitter ⚠
p.Arg499Gln Single submitter ⚠
p.Arg499Trp Single submitter ⚠
p.Arg500Trp Single submitter ⚠
p.Arg516Gln Single submitter ⚠
p.Arg66Pro Single submitter ⚠
p.Arg69Gly Single submitter ⚠
p.Arg7Ser Single submitter ⚠
p.Asn364Ile Single submitter ⚠
p.Asn395Asp Single submitter ⚠
p.Asn461Ser Single submitter ⚠
p.Cys25Arg Single submitter ⚠
p.Gln73Pro Single submitter ⚠
p.Gln94Leu Single submitter ⚠
p.Glu152Lys Single submitter ⚠
p.Glu21Lys Single submitter ⚠
p.Glu249Lys Single submitter ⚠
p.Glu368Asp Single submitter ⚠
p.Glu368Lys Single submitter ⚠
p.Glu46Ala Single submitter ⚠
p.Glu54Gly Single submitter ⚠
p.Gly161Arg Single submitter ⚠
p.Gly260Val Single submitter ⚠
p.Gly26Glu Single submitter ⚠
p.Gly420Arg Single submitter ⚠
p.Gly470Ser Single submitter ⚠
p.Gly470Val Single submitter ⚠
p.Gly58Ala Single submitter ⚠
p.Gly5Arg Single submitter ⚠
p.His207Arg Single submitter ⚠
p.His360Arg Single submitter ⚠
p.His434Gln Single submitter ⚠
p.His501Arg Single submitter ⚠
p.Ile314Met Single submitter ⚠
p.Ile340fs Single submitter
p.Leu203Pro Single submitter
p.Leu211His Single submitter ⚠
p.Leu214Val Single submitter ⚠
p.Leu64Pro Single submitter ⚠
p.Met326Val Single submitter ⚠
p.Met45Ile Single submitter ⚠
p.Met464Arg Single submitter ⚠
p.Phe358Leu Single submitter ⚠
p.Phe440Leu Single submitter ⚠
p.Phe453Leu Single submitter ⚠
p.Pro215Leu Single submitter
p.Pro266Ser Single submitter ⚠
p.Pro36Leu Single submitter ⚠
p.Pro3Thr Single submitter ⚠
p.Pro515Ser Single submitter ⚠
p.Ser176Cys Single submitter ⚠
p.Ser269Phe Single submitter ⚠
p.Thr122Ala Single submitter
p.Thr192Ser Single submitter ⚠
p.Thr197Met Single submitter ⚠
p.Thr344Met Single submitter ⚠
p.Thr385Met Single submitter ⚠
p.Thr514Ile Single submitter ⚠
p.Tyr390Ser Single submitter ⚠
p.Tyr436Cys Single submitter ⚠
p.Val117Met Single submitter ⚠
p.Val396Met Single submitter
p.Val441Ile Single submitter ⚠
p.Val475Met Single submitter ⚠