CSN1S1 — 19 ClinVar variants

All ClinVar germline CSN1S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Benign · 2 Likely benign · 16 Uncertain significance

Full CSN1S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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 16

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

All CSN1S1 variants

Benign 1

c.84+5A>G Multiple submitters

Likely benign 2

c.106-4G>T Single submitter
p.Glu32Asp Single submitter

Uncertain significance 16

p.Ala143Ser Single submitter ⚠
p.Ala148Val Single submitter ⚠
p.Arg26Cys Single submitter ⚠
p.Asp166Asn Single submitter ⚠
p.Asp166Tyr Single submitter ⚠
p.Glu177Gln Single submitter ⚠
p.Glu93Val Single submitter ⚠
p.Ile155Asn Single submitter ⚠
p.Ile87Val Single submitter ⚠
p.Leu14Pro Single submitter ⚠
p.Leu56Arg Single submitter ⚠
p.Met182Val Single submitter ⚠
p.Met83Ile Single submitter ⚠
p.Pro30Ser Single submitter ⚠
p.Thr67Ala Single submitter ⚠
p.Val181Ile Single submitter ⚠