PSMD4 — 30 ClinVar variants
All ClinVar germline PSMD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 1 Benign/Likely benign · 28 Uncertain significance
Full PSMD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD4 p.Ala259Asp Uncertain significance Single submitter
- PSMD4 p.Ala259Thr Uncertain significance Single submitter
- PSMD4 p.Ala303Val Uncertain significance Single submitter
- PSMD4 p.Ala55Ser Uncertain significance Single submitter
- PSMD4 p.Arg108His Uncertain significance Single submitter
- PSMD4 p.Arg237Gln Uncertain significance Single submitter
- PSMD4 p.Arg272Cys Uncertain significance Single submitter
- PSMD4 p.Arg42Cys Uncertain significance Single submitter
- PSMD4 p.Arg42Gly Uncertain significance Single submitter
- PSMD4 p.Glu14Asp Uncertain significance Single submitter
- PSMD4 p.Gly301Asp Uncertain significance Single submitter
- PSMD4 p.His169Gln Uncertain significance Single submitter
- PSMD4 p.Ile265Val Uncertain significance Single submitter
- PSMD4 p.Lys376Asn Uncertain significance Single submitter
- PSMD4 p.Pro174Thr Uncertain significance Single submitter
- PSMD4 p.Ser168Ala Uncertain significance Single submitter
- PSMD4 p.Ser43Arg Uncertain significance Single submitter
- PSMD4 p.Ser43Gly Uncertain significance Single submitter
- PSMD4 p.Thr159Arg Uncertain significance Single submitter
- PSMD4 p.Thr250Met Uncertain significance Single submitter
- PSMD4 p.Thr273Ala Uncertain significance Single submitter
- PSMD4 p.Val136Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PSMD4 p.Arg230Trp Uncertain significance Single submitter
- PSMD4 p.Asn142Ser Uncertain significance Single submitter
- PSMD4 p.Asp67Glu Uncertain significance Single submitter
- PSMD4 p.Met314Val Uncertain significance Single submitter
- PSMD4 p.Pro175Ser Uncertain significance Single submitter
- PSMD4 p.Thr159Met Uncertain significance Single submitter
All PSMD4 variants
Benign 1
- p.Thr250= Multiple submitters
Benign/Likely benign 1
- p.Val92= Multiple submitters
Uncertain significance 28
- p.Ala259Asp Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala55Ser Single submitter ⚠
- p.Arg108His Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg237Gln Single submitter ⚠
- p.Arg272Cys Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Asn142Ser Single submitter ⚠
- p.Asp67Glu Single submitter ⚠
- p.Glu14Asp Single submitter ⚠
- p.Gly301Asp Single submitter ⚠
- p.His169Gln Single submitter ⚠
- p.Ile265Val Single submitter ⚠
- p.Lys376Asn Single submitter ⚠
- p.Met314Val Single submitter ⚠
- p.Pro174Thr Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Ser168Ala Single submitter ⚠
- p.Ser43Arg Single submitter ⚠
- p.Ser43Gly Single submitter ⚠
- p.Thr159Arg Single submitter ⚠
- p.Thr159Met Single submitter ⚠
- p.Thr250Met Single submitter ⚠
- p.Thr273Ala Single submitter ⚠
- p.Val136Ile Single submitter ⚠