PSME3 — 17 ClinVar variants
All ClinVar germline PSME3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Benign · 1 Likely benign · 15 Uncertain significance
Full PSME3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSME3 p.Ala2Ser Uncertain significance Single submitter
- PSME3 p.Arg203Cys Uncertain significance Single submitter
- PSME3 p.Arg246Trp Uncertain significance Single submitter
- PSME3 p.Asn106Ser Uncertain significance Single submitter
- PSME3 p.Asn74Ser Uncertain significance Single submitter
- PSME3 p.His198Pro Uncertain significance Single submitter
- PSME3 p.His232Arg Uncertain significance Single submitter
- PSME3 p.His53Arg Uncertain significance Single submitter
- PSME3 p.Ile118Leu Uncertain significance Single submitter
- PSME3 p.Ile184Val Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PSME3 variants
Benign 1
- c.-1C>T Single submitter
Likely benign 1
- c.406-4C>G Single submitter
Uncertain significance 15
- c.406-17T>C Single submitter
- c.406-2A>G Single submitter
- c.406-39C>T Single submitter
- c.43-151G>A Single submitter
- p.Ala2Ser Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Asn106Ser Single submitter ⚠
- p.Asn74Ser Single submitter ⚠
- p.His198Pro Single submitter ⚠
- p.His232Arg Single submitter ⚠
- p.His53Arg Single submitter ⚠
- p.Ile118Leu Single submitter ⚠
- p.Ile184Val Single submitter ⚠