Sugi Variant

Sugi Variant/NPM1

NPM1 — 61 ClinVar variants

All ClinVar germline NPM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →

4 Pathogenic · 16 Benign · 3 Benign/Likely benign · 13 Likely benign · 25 Uncertain significance

Full NPM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 8

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 4

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

Predictors split 4

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

All NPM1 variants

Pathogenic 4

  • p.Trp288fs Multiple submitters Myelodysplastic syndrome progressed to acute myeloid leukemia
  • p.Trp290fs Single submitter acute myeloid leukemia
  • p.Lys292fs No assertion criteria acute myeloid leukemia
  • p.Ter295= No assertion criteria acute myeloid leukemia

Benign 16

Benign/Likely benign 3

Likely benign 13

Uncertain significance 25