PSMC4 — 22 ClinVar variants
All ClinVar germline PSMC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
2 Likely benign · 20 Uncertain significance
Full PSMC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMC4 p.Arg252His Uncertain significance Single submitter
- PSMC4 p.Asp13His Uncertain significance Single submitter
- PSMC4 p.Gln24His Uncertain significance Single submitter
- PSMC4 p.Glu33Lys Uncertain significance Single submitter
- PSMC4 p.Gly31Ser Uncertain significance Single submitter
- PSMC4 p.Ile172Val Uncertain significance Single submitter
- PSMC4 p.Ile261Val Uncertain significance Single submitter
- PSMC4 p.Phe227Leu Uncertain significance Single submitter
- PSMC4 p.Pro144Leu Uncertain significance Single submitter
- PSMC4 p.Pro199Arg Uncertain significance Single submitter
- PSMC4 p.Pro86Leu Uncertain significance Single submitter
- PSMC4 p.Ser21Ala Uncertain significance Single submitter
- PSMC4 p.Ser377Phe Uncertain significance Single submitter
- PSMC4 p.Val20Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PSMC4 variants
Uncertain significance 20
- p.Arg178Gln Single submitter ⚠
- p.Arg252His Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Asp13His Single submitter ⚠
- p.Asp161Gly Single submitter
- p.Asp197Asn Single submitter ⚠
- p.Gln24His Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Gly31Ser Single submitter ⚠
- p.Ile172Val Single submitter ⚠
- p.Ile261Val Single submitter ⚠
- p.Met170Val Single submitter
- p.Phe227Leu Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Pro199Arg Single submitter ⚠
- p.Pro86Leu Single submitter ⚠
- p.Ser21Ala Single submitter ⚠
- p.Ser377Phe Single submitter ⚠
- p.Thr186Met Single submitter ⚠
- p.Val20Met Single submitter ⚠