Sugi Variant

Sugi Variant/PSMA3

PSMA3 — 246 ClinVar variants

All ClinVar germline PSMA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

2 Pathogenic · 2 Conflicting · 10 Benign · 1 Benign/Likely benign · 129 Likely benign · 102 Uncertain significance

Full PSMA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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 agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 55

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

The independent predictors disagree with each other — read with care.

All PSMA3 variants

Pathogenic 2

  • c.404+2T>C No assertion criteria PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
  • p.Arg233del No assertion criteria PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC

Conflicting classifications of pathogenicity 2

Benign 10

Benign/Likely benign 1

Likely benign 129

Uncertain significance 102