VSIR — 10 ClinVar variants
All ClinVar germline VSIR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
1 Benign · 3 Likely benign · 6 Uncertain significance
Full VSIR 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 VSIR variants
Benign 1
- p.Ile240Thr Single submitter
Likely benign 3
- c.82+17C>G Single submitter
- c.82+20G>A Single submitter
- p.Pro29Leu Single submitter
Uncertain significance 6
- p.Arg232Trp Single submitter ⚠
- p.Asp112Glu Single submitter ⚠
- p.Glu165Ala Single submitter ⚠
- p.Gly78Ser Single submitter ⚠
- p.Leu213Phe Single submitter ⚠
- p.Pro209Ala Single submitter ⚠