PSMD3 — 53 ClinVar variants
All ClinVar germline PSMD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Benign · 4 Likely benign · 48 Uncertain significance
Full PSMD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD3 p.Ala155Val Uncertain significance Single submitter
- PSMD3 p.Ala15Gly Uncertain significance Single submitter
- PSMD3 p.Ala215Thr Uncertain significance Single submitter
- PSMD3 p.Ala312Thr Uncertain significance Single submitter
- PSMD3 p.Ala41Pro Uncertain significance Single submitter
- PSMD3 p.Arg107His Uncertain significance Single submitter
- PSMD3 p.Arg216Trp Uncertain significance Single submitter
- PSMD3 p.Arg345Trp Uncertain significance Single submitter
- PSMD3 p.Arg399Gln Uncertain significance Single submitter
- PSMD3 p.Arg511Trp Uncertain significance Single submitter
- PSMD3 p.Gln24Glu Uncertain significance Single submitter
- PSMD3 p.Gln299His Uncertain significance Single submitter
- PSMD3 p.Glu510Gly Uncertain significance Single submitter
- PSMD3 p.Gly119Ser Uncertain significance Single submitter
- PSMD3 p.Gly5Ser Uncertain significance Single submitter
- PSMD3 p.Ile75Met Uncertain significance Single submitter
- PSMD3 p.Leu159Phe Uncertain significance Single submitter
- PSMD3 p.Leu519Phe Uncertain significance Single submitter
- PSMD3 p.Lys194Gln Uncertain significance Single submitter
- PSMD3 p.Met192Leu Uncertain significance Single submitter
- PSMD3 p.Pro19Ser Uncertain significance Single submitter
- PSMD3 p.Ser156Leu Uncertain significance Single submitter
- PSMD3 p.Ser450Thr Uncertain significance Single submitter
- PSMD3 p.Thr239Met Uncertain significance Single submitter
- PSMD3 p.Thr320Arg Uncertain significance Single submitter
- PSMD3 p.Thr320Lys Uncertain significance Single submitter
- PSMD3 p.Thr391Ala Uncertain significance Single submitter
- PSMD3 p.Tyr212Ser Uncertain significance Single submitter
- PSMD3 p.Tyr264His Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- PSMD3 p.Arg106His Uncertain significance Single submitter
- PSMD3 p.Arg107Cys Uncertain significance Single submitter
- PSMD3 p.Arg180Cys Uncertain significance Single submitter
- PSMD3 p.Arg180His Uncertain significance Single submitter
- PSMD3 p.Arg180Leu Uncertain significance Single submitter
- PSMD3 p.Gln478Glu Uncertain significance Single submitter
- PSMD3 p.Glu384Gly Uncertain significance Single submitter
- PSMD3 p.Glu510Gln Uncertain significance Single submitter
- PSMD3 p.Gly119Val Uncertain significance Single submitter
- PSMD3 p.Gly21Arg Uncertain significance Single submitter
- PSMD3 p.His260Arg Uncertain significance Single submitter
- PSMD3 p.Phe93Leu Uncertain significance Single submitter
- PSMD3 p.Pro28Leu Likely benign Single submitter
- PSMD3 p.Pro431Thr Uncertain significance Single submitter
- PSMD3 p.Ser188Cys Uncertain significance Single submitter
- PSMD3 p.Ser460Thr Uncertain significance Single submitter
- PSMD3 p.Ser6Leu Uncertain significance Single submitter
- PSMD3 p.Thr151Met Uncertain significance Single submitter
- PSMD3 p.Tyr218Asn Uncertain significance Single submitter
- PSMD3 p.Val226Met Uncertain significance Single submitter
All PSMD3 variants
Benign 1
- p.Val227= Multiple submitters
Likely benign 4
- p.Arg10= Single submitter
- p.Asn283del Single submitter
- p.Pro28Leu Single submitter ⚠
- p.Thr48Ala Single submitter
Uncertain significance 48
- p.Ala155Val Single submitter ⚠
- p.Ala15Gly Single submitter ⚠
- p.Ala215Thr Single submitter ⚠
- p.Ala312Thr Single submitter ⚠
- p.Ala41Pro Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg180Leu Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg345Trp Single submitter ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg511Trp Single submitter ⚠
- p.Gln24Glu Single submitter ⚠
- p.Gln299His Single submitter ⚠
- p.Gln478Glu Single submitter ⚠
- p.Glu384Gly Single submitter ⚠
- p.Glu510Gln Single submitter ⚠
- p.Glu510Gly Single submitter ⚠
- p.Gly119Ser Single submitter ⚠
- p.Gly119Val Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.His260Arg Single submitter ⚠
- p.Ile75Met Single submitter ⚠
- p.Leu159Phe Single submitter ⚠
- p.Leu519Phe Single submitter ⚠
- p.Lys194Gln Single submitter ⚠
- p.Met192Leu Single submitter ⚠
- p.Phe93Leu Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro431Thr Single submitter ⚠
- p.Ser156Leu Single submitter ⚠
- p.Ser188Cys Single submitter ⚠
- p.Ser450Thr Single submitter ⚠
- p.Ser460Thr Single submitter ⚠
- p.Ser6Leu Single submitter ⚠
- p.Thr151Met Single submitter ⚠
- p.Thr239Met Single submitter ⚠
- p.Thr320Arg Single submitter ⚠
- p.Thr320Lys Single submitter ⚠
- p.Thr391Ala Single submitter ⚠
- p.Tyr212Ser Single submitter ⚠
- p.Tyr218Asn Single submitter ⚠
- p.Tyr264His Single submitter ⚠
- p.Val226Met Single submitter ⚠