SAT1 — 3 ClinVar variants
All ClinVar germline SAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
1 Conflicting · 1 Likely benign · 1 Uncertain significance
Full SAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All SAT1 variants
Conflicting classifications of pathogenicity 1
- p.Ala12Asp Single submitter ⚠
Likely benign 1
- p.Arg121= Single submitter
Uncertain significance 1
- p.Val129Ile Single submitter ⚠