PSMD10 — 15 ClinVar variants
All ClinVar germline PSMD10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Benign · 1 Likely benign · 12 Uncertain significance
Full PSMD10 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD10 p.Arg85Gln Uncertain significance Single submitter
- PSMD10 p.Gln194His Uncertain significance Single submitter
- PSMD10 p.Glu183Lys Uncertain significance Single submitter
- PSMD10 p.Glu24Lys Uncertain significance Single submitter
- PSMD10 p.His137Arg Uncertain significance Single submitter
- PSMD10 p.Leu218Ile Uncertain significance Single submitter
- PSMD10 p.Thr141Ile Uncertain significance Single submitter
- PSMD10 p.Tyr138Phe Uncertain significance Single submitter
- PSMD10 p.Tyr160Cys Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PSMD10 variants
Benign 2
- p.Gly226Asp Multiple submitters
- p.Asn166= Single submitter
Likely benign 1
- p.Gly3= Single submitter
Uncertain significance 12
- p.Ala147Thr Single submitter
- p.Arg85Gln Single submitter ⚠
- p.Gln194His Single submitter ⚠
- p.Glu127Ala Single submitter
- p.Glu183Lys Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.His137Arg Single submitter ⚠
- p.Leu218Ile Single submitter ⚠
- p.Ser31Cys Single submitter ⚠
- p.Thr141Ile Single submitter ⚠
- p.Tyr138Phe Single submitter ⚠
- p.Tyr160Cys Single submitter ⚠