Sugi Variant

Sugi Variant/NAPB

NAPB — 37 ClinVar variants

All ClinVar germline NAPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

3 Pathogenic · 1 Conflicting · 4 Likely benign · 29 Uncertain significance

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

⚑ Evidence disagreements 26

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 12

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

Predictors split 14

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

All NAPB variants

Pathogenic 3

  • p.Trp58Ter Single submitter developmental and epileptic encephalopathy 107
  • p.Tyr111Ter Single submitter developmental and epileptic encephalopathy 107
  • p.Ser160Ter No assertion criteria developmental and epileptic encephalopathy 107

Conflicting classifications of pathogenicity 1

  • c.421-1G>A No assertion criteria developmental and epileptic encephalopathy 107

Likely benign 4

Uncertain significance 29