PSMC6 — 12 ClinVar variants
All ClinVar germline PSMC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Likely benign · 11 Uncertain significance
Full PSMC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 1
The independent predictors disagree with each other — read with care.
All PSMC6 variants
Likely benign 1
- c.-4C>T Single submitter
Uncertain significance 11
- c.17T>A Single submitter
- c.-12C>T Single submitter
- c.-20A>G Single submitter
- c.-9C>T Single submitter
- p.Arg356Cys Single submitter ⚠
- p.Gly5Ser Single submitter
- p.Ile331Val Single submitter ⚠
- p.Ile6Leu Single submitter
- p.Pro4Leu Single submitter ⚠
- p.Thr37Asn Single submitter ⚠
- p.Val187Ile Single submitter ⚠