PSMC1 — 16 ClinVar variants

All ClinVar germline PSMC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →

1 Pathogenic · 1 Benign · 1 Benign/Likely benign · 2 Likely benign · 11 Uncertain significance

Full PSMC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 10

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 8

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 PSMC1 variants

Pathogenic 1

p.Ile328Thr Single submitter neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Benign 1

p.Ile115= Multiple submitters

Benign/Likely benign 1

p.Glu77= Multiple submitters

Likely benign 2

c.882-5C>T Single submitter
p.Thr167= Single submitter

Uncertain significance 11

p.Ala402Thr Single submitter ⚠
p.Asp348Asn Single submitter ⚠
p.Asp382Asn Single submitter ⚠
p.Glu199Gln Single submitter ⚠
p.Gly147Ser Single submitter ⚠
p.Ile256Thr Single submitter ⚠
p.Leu235Ile Single submitter ⚠
p.Leu88Ser Single submitter ⚠
p.Lys423Arg Single submitter ⚠
p.Phe353Leu Single submitter ⚠
c.279+8G>A No assertion criteria prostate cancer