SGTA — 21 ClinVar variants
All ClinVar germline SGTA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
2 Benign · 1 Likely benign · 18 Uncertain significance
Full SGTA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SGTA p.Ala10Thr Uncertain significance Single submitter
- SGTA p.Ala53Gly Uncertain significance Single submitter
- SGTA p.Ala66Thr Uncertain significance Single submitter
- SGTA p.Ala66Val Uncertain significance Single submitter
- SGTA p.Glu108Gly Uncertain significance Single submitter
- SGTA p.Gly223Ser Uncertain significance Single submitter
- SGTA p.Gly249Ser Uncertain significance Single submitter
- SGTA p.Gly262Ser Uncertain significance Single submitter
- SGTA p.Ile12Met Uncertain significance Single submitter
- SGTA p.Leu54Phe Uncertain significance Single submitter
- SGTA p.Ser272Gly Uncertain significance Single submitter
- SGTA p.Ser272Thr Uncertain significance Single submitter
- SGTA p.Tyr141Phe Uncertain significance Single submitter
- SGTA p.Val104Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All SGTA variants
Likely benign 1
- p.Gly166= Single submitter
Uncertain significance 18
- p.Ala10Thr Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala53Gly Single submitter ⚠
- p.Ala66Thr Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Arg302Pro Single submitter ⚠
- p.Gln275Ter Single submitter
- p.Glu108Gly Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.Gly249Ser Single submitter ⚠
- p.Gly253Asp Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Ile12Met Single submitter ⚠
- p.Leu54Phe Single submitter ⚠
- p.Ser272Gly Single submitter ⚠
- p.Ser272Thr Single submitter ⚠
- p.Tyr141Phe Single submitter ⚠
- p.Val104Met Single submitter ⚠