Sugi Variant

Sugi Variant/SCN3B

SCN3B — 245 ClinVar variants

All ClinVar germline SCN3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

2 Pathogenic · 14 Conflicting · 22 Benign · 6 Benign/Likely benign · 82 Likely benign · 119 Uncertain significance

Full SCN3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 71

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

Predictors split 23

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

All SCN3B variants

Pathogenic 2

  • p.Arg6Lys No assertion criteria atrial fibrillation, familial, 16 ⚠
  • p.Met161Thr No assertion criteria atrial fibrillation, familial, 16

Conflicting classifications of pathogenicity 14

Benign 22

Benign/Likely benign 6

  • p.Ala130= Multiple submitters Cardiovascular phenotype
  • p.Ala35= Multiple submitters Cardiovascular phenotype
  • p.Asn194= Multiple submitters Cardiovascular phenotype
  • p.Asn5= Multiple submitters Brugada syndrome 7
  • p.Glu83= Multiple submitters Brugada syndrome 7
  • p.Tyr179= Multiple submitters Brugada syndrome 7

Likely benign 82

Uncertain significance 119