PSMA1 — 16 ClinVar variants
All ClinVar germline PSMA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Benign · 1 Likely benign · 14 Uncertain significance
Full PSMA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMA1 p.Ala257Thr Uncertain significance Single submitter
- PSMA1 p.Arg164His Uncertain significance Single submitter
- PSMA1 p.Arg89Leu Uncertain significance Single submitter
- PSMA1 p.Asp100Asn Uncertain significance Single submitter
- PSMA1 p.Gln166His Uncertain significance Single submitter
- PSMA1 p.Glu252Lys Uncertain significance Single submitter
- PSMA1 p.Ile144Val Uncertain significance Single submitter
- PSMA1 p.Ile161Val Uncertain significance Single submitter
- PSMA1 p.Ile70Val Uncertain significance Single submitter
- PSMA1 p.Ile74Val Uncertain significance Single submitter
- PSMA1 p.Met26Val Uncertain significance Single submitter
- PSMA1 p.Tyr224Cys Uncertain significance Single submitter
All PSMA1 variants
Benign 1
- p.Val229= Single submitter
Likely benign 1
- c.4-7_4-2del Single submitter
Uncertain significance 14
- p.Ala257Thr Single submitter ⚠
- p.Arg164His Single submitter ⚠
- p.Arg89Leu Single submitter ⚠
- p.Asp100Asn Single submitter ⚠
- p.Gln166His Single submitter ⚠
- p.Glu252Lys Single submitter ⚠
- p.Ile144Val Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Met26Val Single submitter ⚠
- p.Thr147Ser Single submitter
- p.Tyr224Cys Single submitter ⚠
- p.Arg3Ter No assertion criteria