PSMA7 — 22 ClinVar variants
All ClinVar germline PSMA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Benign · 1 Likely benign · 20 Uncertain significance
Full PSMA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMA7 p.Ala51Pro Uncertain significance Single submitter
- PSMA7 p.Arg169Cys Uncertain significance Single submitter
- PSMA7 p.Arg213Gln Uncertain significance Single submitter
- PSMA7 p.Arg60Trp Uncertain significance Single submitter
- PSMA7 p.Asn221Asp Uncertain significance Single submitter
- PSMA7 p.Asp39Gly Uncertain significance Single submitter
- PSMA7 p.Gln215Arg Uncertain significance Single submitter
- PSMA7 p.Ile181Thr Uncertain significance Single submitter
- PSMA7 p.Leu53Pro Uncertain significance Single submitter
- PSMA7 p.Lys174Thr Uncertain significance Single submitter
-
PSMA7 p.Lys193Arg
Uncertain significance
Single submitter
PSMA7-related disorder
- PSMA7 p.Met211Ile Uncertain significance Single submitter
- PSMA7 p.Tyr228Phe Uncertain significance Single submitter
-
PSMA7 p.Ala112Asp
Uncertain significance
No assertion criteria
Variant of unknown significance
Predictors split 4
The independent predictors disagree with each other — read with care.
All PSMA7 variants
Benign 1
- c.223+9C>T Multiple submitters
Likely benign 1
- p.Ile107= Single submitter
Uncertain significance 20
- p.Ala51Pro Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg213Gln Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Asn221Asp Single submitter ⚠
- p.Asn68del Single submitter PSMA7-related disorder
- p.Asn85Ser Single submitter ⚠
- p.Asp178Tyr Single submitter
- p.Asp39Gly Single submitter ⚠
- p.Gln215Arg Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Ile181Thr Single submitter ⚠
- p.Leu53Pro Single submitter ⚠
- p.Lys174Thr Single submitter ⚠
- p.Lys193Arg Single submitter PSMA7-related disorder ⚠
- p.Met211Ile Single submitter ⚠
- p.Tyr228Phe Single submitter ⚠
- p.Val134Met Single submitter ⚠
- p.Ala112Asp No assertion criteria Variant of unknown significance ⚠