Sugi Variant

Sugi Variant/POMP

POMP — 149 ClinVar variants

All ClinVar germline POMP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 8 Benign · 3 Benign/Likely benign · 58 Likely benign · 74 Uncertain significance

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

⚑ Evidence disagreements 56

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 48

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

Predictors split 8

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

All POMP variants

Pathogenic 3

  • p.Ile112fs Multiple submitters proteasome-associated autoinflammatory syndrome 2
  • p.Glu115fs No assertion criteria proteasome-associated autoinflammatory syndrome 2
  • p.Phe114fs No assertion criteria proteasome-associated autoinflammatory syndrome 2

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

  • c.265-1G>C Single submitter proteasome-associated autoinflammatory syndrome 2
  • c.358+4A>G Single submitter

Benign 8

Benign/Likely benign 3

Likely benign 58

Uncertain significance 74