SCN2B — 244 ClinVar variants

All ClinVar germline SCN2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

14 Conflicting · 13 Benign · 3 Benign/Likely benign · 92 Likely benign · 122 Uncertain significance

Full SCN2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 11

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

Predictors lean, ClinVar uncertain 68

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

Predictors split 34

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

All SCN2B variants

Conflicting classifications of pathogenicity 14

Benign 13

Benign/Likely benign 3

  • p.Gly43= Multiple submitters Cardiovascular phenotype
  • p.Thr204= Multiple submitters Cardiovascular phenotype
  • p.Val166Ile Multiple submitters atrial fibrillation, familial, 14

Likely benign 92

  • c.449-78C>T Multiple submitters
  • p.Ala159= Multiple submitters Cardiovascular phenotype
  • p.Asn116= Multiple submitters atrial fibrillation, familial, 14
  • p.Asn39= Multiple submitters Cardiovascular phenotype
  • p.Asn42= Multiple submitters Cardiovascular phenotype
  • p.Asn53= Multiple submitters Cardiovascular phenotype
  • p.Asp109= Multiple submitters Cardiovascular phenotype
  • p.Asp205= Multiple submitters Cardiovascular phenotype
  • p.Asp45= Multiple submitters Cardiovascular phenotype
  • p.Cys50= Multiple submitters atrial fibrillation, familial, 14
  • p.Gln118= Multiple submitters Cardiovascular phenotype
  • p.Gly123= Multiple submitters atrial fibrillation, familial, 14
  • p.Gly213= Multiple submitters atrial fibrillation, familial, 14
  • p.His136= Multiple submitters Cardiovascular phenotype
  • p.Leu114= Multiple submitters atrial fibrillation, familial, 14
  • p.Leu175= Multiple submitters atrial fibrillation, familial, 14
  • p.Leu177= Multiple submitters Cardiovascular phenotype
  • p.Leu48= Multiple submitters atrial fibrillation, familial, 14
  • p.Lys107= Multiple submitters Cardiovascular phenotype
  • p.Phe101= Multiple submitters Cardiovascular phenotype
  • p.Pro119= Multiple submitters Cardiovascular phenotype
  • p.Pro119Leu Multiple submitters Cardiovascular phenotype
  • p.Pro132= Multiple submitters atrial fibrillation, familial, 14
  • p.Ser13= Multiple submitters Cardiovascular phenotype
  • p.Ser165= Multiple submitters Cardiovascular phenotype
  • p.Thr157Met Multiple submitters Cardiovascular phenotype
  • p.Thr198= Multiple submitters Cardiovascular phenotype
  • p.Thr204Met Multiple submitters Cardiovascular phenotype
  • p.Tyr108= Multiple submitters Cardiovascular phenotype
  • p.Val32= Multiple submitters Cardiovascular phenotype
  • c.237+11G>C Single submitter atrial fibrillation, familial, 14
  • c.237+138T>C Single submitter
  • c.237+19G>A Single submitter atrial fibrillation, familial, 14
  • c.238-12C>A Single submitter atrial fibrillation, familial, 14
  • c.238-18C>T Single submitter atrial fibrillation, familial, 14
  • c.238-6C>T Single submitter atrial fibrillation, familial, 14
  • c.448+13G>A Single submitter atrial fibrillation, familial, 14
  • c.448+13G>T Single submitter atrial fibrillation, familial, 14
  • c.449-13_449-12delinsAA Single submitter atrial fibrillation, familial, 14
  • c.449-151G>T Single submitter
  • c.449-15C>T Single submitter atrial fibrillation, familial, 14
  • c.70+14A>G Single submitter atrial fibrillation, familial, 14
  • c.70+14A>T Single submitter atrial fibrillation, familial, 14
  • c.70+15T>C Single submitter atrial fibrillation, familial, 14
  • c.70+17T>C Single submitter atrial fibrillation, familial, 14
  • c.70+18G>C Single submitter atrial fibrillation, familial, 14
  • c.71-13G>C Single submitter atrial fibrillation, familial, 14
  • c.71-310G>A Single submitter
  • c.-14_-12del Single submitter
  • c.-24C>T Single submitter
  • c.-34G>A Single submitter
  • p.Ala36= Single submitter atrial fibrillation, familial, 14
  • p.Arg135= Single submitter Cardiovascular phenotype
  • p.Arg28= Single submitter Cardiovascular phenotype
  • p.Arg47= Single submitter Cardiovascular phenotype
  • p.Asn126Lys Single submitter Cardiovascular phenotype ⚠
  • p.Asp195= Single submitter atrial fibrillation, familial, 14
  • p.Cys182= Single submitter atrial fibrillation, familial, 14
  • p.Cys55= Single submitter atrial fibrillation, familial, 14
  • p.Gln145Arg Single submitter Cardiovascular phenotype
  • p.Gln189= Single submitter atrial fibrillation, familial, 14
  • p.Glu100= Single submitter atrial fibrillation, familial, 14
  • p.Glu120= Single submitter Cardiovascular phenotype
  • p.Glu153= Single submitter Cardiovascular phenotype
  • p.Glu199= Single submitter Cardiovascular phenotype
  • p.Glu200= Single submitter Cardiovascular phenotype
  • p.Gly27= Single submitter atrial fibrillation, familial, 14
  • p.His143Tyr Single submitter Cardiovascular phenotype
  • p.Leu14= Single submitter Cardiovascular phenotype
  • p.Leu17= Single submitter atrial fibrillation, familial, 14
  • p.Leu170= Single submitter atrial fibrillation, familial, 14
  • p.Leu196= Single submitter Cardiovascular phenotype
  • p.Leu23= Single submitter atrial fibrillation, familial, 14
  • p.Leu38= Single submitter atrial fibrillation, familial, 14
  • p.Leu90= Single submitter atrial fibrillation, familial, 14
  • p.Lys187= Single submitter atrial fibrillation, familial, 14
  • p.Phe169= Single submitter Cardiovascular phenotype
  • p.Phe52= Single submitter atrial fibrillation, familial, 14
  • p.Pro133= Single submitter atrial fibrillation, familial, 14
  • p.Pro151Leu Single submitter Cardiovascular phenotype ⚠
  • p.Pro210= Single submitter atrial fibrillation, familial, 14
  • p.Pro49Leu Single submitter Cardiovascular phenotype
  • p.Ser111= Single submitter atrial fibrillation, familial, 14
  • p.Ser156= Single submitter Cardiovascular phenotype
  • p.Ser192= Single submitter Cardiovascular phenotype
  • p.Thr15= Single submitter Cardiovascular phenotype
  • p.Thr157= Single submitter atrial fibrillation, familial, 14
  • p.Thr37= Single submitter atrial fibrillation, familial, 14
  • p.Val160= Single submitter Cardiovascular phenotype
  • p.Val166= Single submitter atrial fibrillation, familial, 14
  • p.Val183= Single submitter Cardiovascular phenotype
  • p.Val34= Single submitter

Uncertain significance 122