SUB1 — 8 ClinVar variants
All ClinVar germline SUB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
1 Benign · 1 Likely benign · 6 Uncertain significance
Full SUB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All SUB1 variants
Benign 1
- c.196-10T>A Multiple submitters
Likely benign 1
- p.Ala48= Single submitter
Uncertain significance 6
- p.Ala32Ser Single submitter ⚠
- p.Asp60Glu Single submitter ⚠
- p.Gln54Arg Single submitter ⚠
- p.Ser57Cys Single submitter ⚠
- p.Ser57Gly Single submitter ⚠
- p.Ser73Asn Single submitter ⚠