Sugi Variant

Sugi Variant/PSMD12

PSMD12 — 157 ClinVar variants

All ClinVar germline PSMD12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

21 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 2 Conflicting · 4 Benign · 10 Likely benign · 106 Uncertain significance

Full PSMD12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 90

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 64

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

Predictors split 24

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

All PSMD12 variants

Pathogenic 21

Pathogenic/Likely pathogenic 1

  • p.Arg144Ter Multiple submitters Stankiewicz-Isidor syndrome

Likely pathogenic 13

Conflicting classifications of pathogenicity 2

Benign 4

Likely benign 10

Uncertain significance 106