STH — 16 ClinVar variants
All ClinVar germline STH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
5 Likely benign · 11 Uncertain significance
Full STH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- STH p.Ala112Asp Uncertain significance Single submitter
- STH p.Gln93Lys Uncertain significance Single submitter
- STH p.Gly119Arg Uncertain significance Single submitter
- STH p.Pro109Arg Uncertain significance Single submitter
- STH p.Pro116Thr Uncertain significance Single submitter
- STH p.Pro22Leu Uncertain significance Single submitter
- STH p.Ser2Ile Uncertain significance Single submitter
- STH p.Trp74Arg Uncertain significance Single submitter
- STH p.Val65Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All STH variants
Likely benign 5
- p.Ala123Val Single submitter
- p.Asn86Asp Single submitter
- p.Ile25Thr Single submitter
- p.Ser95Pro Single submitter
- p.Cys27= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 11
- p.Ala112Asp Single submitter ⚠
- p.Gln93Lys Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Met39Ile Single submitter ⚠
- p.Pro109Arg Single submitter ⚠
- p.Pro116Thr Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Ser2Ile Single submitter ⚠
- p.Trp21Cys Single submitter ⚠
- p.Trp74Arg Single submitter ⚠
- p.Val65Ala Single submitter ⚠