PSMD1 — 58 ClinVar variants
All ClinVar germline PSMD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
3 Benign · 2 Likely benign · 53 Uncertain significance
Full PSMD1 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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMD1 p.Ala334Val Uncertain significance Single submitter
- PSMD1 p.Ala406Thr Uncertain significance Single submitter
- PSMD1 p.Ala468Thr Uncertain significance Single submitter
- PSMD1 p.Ala565Val Uncertain significance Single submitter
- PSMD1 p.Ala739Thr Uncertain significance Single submitter
- PSMD1 p.Arg194Gln Uncertain significance Single submitter
- PSMD1 p.Arg55Gln Uncertain significance Single submitter
- PSMD1 p.Asn89Ser Uncertain significance Single submitter
- PSMD1 p.Asp320His Uncertain significance Single submitter
- PSMD1 p.Asp51Gly Uncertain significance Single submitter
- PSMD1 p.Gln189Glu Uncertain significance Single submitter
- PSMD1 p.Gln218Glu Uncertain significance Single submitter
- PSMD1 p.Gln259Lys Uncertain significance Single submitter
- PSMD1 p.Glu156Gln Uncertain significance Single submitter
- PSMD1 p.Glu863Asp Uncertain significance Single submitter
- PSMD1 p.Glu866Gly Uncertain significance Single submitter
- PSMD1 p.Gly121Arg Uncertain significance Single submitter
- PSMD1 p.Gly132Ala Uncertain significance Single submitter
- PSMD1 p.Ile371Val Uncertain significance Single submitter
- PSMD1 p.Ile701Phe Uncertain significance Single submitter
- PSMD1 p.Ile789Val Uncertain significance Single submitter
- PSMD1 p.Ile908Val Uncertain significance Single submitter
- PSMD1 p.Ile951Thr Uncertain significance Single submitter
- PSMD1 p.Leu693Val Uncertain significance Single submitter
- PSMD1 p.Lys196Ile Uncertain significance Single submitter
- PSMD1 p.Lys715Arg Uncertain significance Single submitter
- PSMD1 p.Lys862Arg Uncertain significance Single submitter
- PSMD1 p.Met556Ile Uncertain significance Single submitter
- PSMD1 p.Pro814Ser Uncertain significance Single submitter
- PSMD1 p.Pro871Leu Uncertain significance Single submitter
- PSMD1 p.Pro895Leu Uncertain significance Single submitter
- PSMD1 p.Ser296Leu Uncertain significance Single submitter
- PSMD1 p.Ser918Gly Uncertain significance Single submitter
- PSMD1 p.Tyr682Cys Uncertain significance Single submitter
- PSMD1 p.Val197Ala Uncertain significance Single submitter
- PSMD1 p.Val42Ile Uncertain significance Single submitter
- PSMD1 p.Val636Ile Uncertain significance Single submitter
- PSMD1 p.Val819Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PSMD1 p.Ala617Thr Uncertain significance Single submitter
- PSMD1 p.Asn89Tyr Uncertain significance Single submitter
- PSMD1 p.Glu16Lys Uncertain significance Single submitter
- PSMD1 p.Gly454Ala Uncertain significance Single submitter
- PSMD1 p.Met185Thr Uncertain significance Single submitter
- PSMD1 p.Met351Ile Uncertain significance Single submitter
- PSMD1 p.Phe875Leu Uncertain significance Single submitter
- PSMD1 p.Ser635Asn Uncertain significance Single submitter
- PSMD1 p.Thr348Ile Uncertain significance Single submitter
- PSMD1 p.Thr629Ser Uncertain significance Single submitter
- PSMD1 p.Val162Ala Uncertain significance Single submitter
All PSMD1 variants
Benign 3
- c.1072-3C>T Multiple submitters
- c.2482-9T>C Multiple submitters
- p.Ala812= Multiple submitters
Likely benign 2
- c.2219-4A>G Single submitter
- p.Ala245= Single submitter
Uncertain significance 53
- p.Ala334Val Single submitter ⚠
- p.Ala372fs Single submitter
- p.Ala406Thr Single submitter ⚠
- p.Ala468Thr Single submitter ⚠
- p.Ala565Val Single submitter ⚠
- p.Ala617Thr Single submitter ⚠
- p.Ala739Thr Single submitter ⚠
- p.Arg140Ter Single submitter
- p.Arg194Gln Single submitter ⚠
- p.Arg55Gln Single submitter ⚠
- p.Asn665Ile Single submitter
- p.Asn89Ser Single submitter ⚠
- p.Asn89Tyr Single submitter ⚠
- p.Asp320His Single submitter ⚠
- p.Asp51Gly Single submitter ⚠
- p.Gln189Glu Single submitter ⚠
- p.Gln218Glu Single submitter ⚠
- p.Gln259Lys Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Glu863Asp Single submitter ⚠
- p.Glu866Gly Single submitter ⚠
- p.Gly121Arg Single submitter ⚠
- p.Gly132Ala Single submitter ⚠
- p.Gly454Ala Single submitter ⚠
- p.Ile101Thr Single submitter
- p.Ile371Val Single submitter ⚠
- p.Ile701Phe Single submitter ⚠
- p.Ile789Val Single submitter ⚠
- p.Ile908Val Single submitter ⚠
- p.Ile951Thr Single submitter ⚠
- p.Leu693Val Single submitter ⚠
- p.Lys196Ile Single submitter ⚠
- p.Lys715Arg Single submitter ⚠
- p.Lys862Arg Single submitter ⚠
- p.Met185Thr Single submitter ⚠
- p.Met351Ile Single submitter ⚠
- p.Met556Ile Single submitter ⚠
- p.Phe875Leu Single submitter ⚠
- p.Pro814Ser Single submitter ⚠
- p.Pro871Leu Single submitter ⚠
- p.Pro895Leu Single submitter ⚠
- p.Ser296Leu Single submitter ⚠
- p.Ser635Asn Single submitter ⚠
- p.Ser918Gly Single submitter ⚠
- p.Thr348Ile Single submitter ⚠
- p.Thr629Ser Single submitter ⚠
- p.Tyr682Cys Single submitter ⚠
- p.Val162Ala Single submitter ⚠
- p.Val197Ala Single submitter ⚠
- p.Val42Ile Single submitter ⚠
- p.Val636Ile Single submitter ⚠
- p.Val819Ile Single submitter ⚠