PSMD14 — 11 ClinVar variants
All ClinVar germline PSMD14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Benign · 1 Likely benign · 9 Uncertain significance
Full PSMD14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD14 p.Asp233Asn Uncertain significance Single submitter
- PSMD14 p.Asp263Glu Uncertain significance Single submitter
- PSMD14 p.Asp64Gly Uncertain significance Single submitter
- PSMD14 p.Gln232Lys Uncertain significance Single submitter
- PSMD14 p.Gly171Ala Uncertain significance Single submitter
- PSMD14 p.Ile203Val Uncertain significance Single submitter
- PSMD14 p.Val308Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PSMD14 variants
Benign 1
- c.121-6C>A Multiple submitters
Likely benign 1
- p.Thr66= Single submitter
Uncertain significance 9
- p.Arg208Gln Single submitter
- p.Asn256Ser Single submitter ⚠
- p.Asp233Asn Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp64Gly Single submitter ⚠
- p.Gln232Lys Single submitter ⚠
- p.Gly171Ala Single submitter ⚠
- p.Ile203Val Single submitter ⚠
- p.Val308Ile Single submitter ⚠