Sugi Variant

Sugi Variant/NSF

NSF — 57 ClinVar variants

All ClinVar germline NSF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 1 Benign/Likely benign · 5 Likely benign · 42 Uncertain significance

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

⚑ Evidence disagreements 40

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 1

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

Predictors lean, ClinVar uncertain 27

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

Predictors split 12

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

All NSF variants

Pathogenic 2

  • p.Gly222Ser Single submitter developmental and epileptic encephalopathy 96
  • p.Ala459Thr No assertion criteria developmental and epileptic encephalopathy 96 ⚠

Pathogenic/Likely pathogenic 1

  • p.Pro563Leu Multiple submitters developmental and epileptic encephalopathy 96

Likely pathogenic 4

Conflicting classifications of pathogenicity 2

Benign/Likely benign 1

Likely benign 5

Uncertain significance 42