Sugi Variant

Sugi Variant/SCN1B

SCN1B — 691 ClinVar variants

All ClinVar germline SCN1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →

25 Pathogenic · 4 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 63 Conflicting · 33 Benign · 35 Benign/Likely benign · 158 Likely benign · 367 Uncertain significance

Full SCN1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 209

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 11

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

Predictors lean, ClinVar uncertain 124

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

Predictors split 73

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

All SCN1B variants

Pathogenic 25

Pathogenic/Likely pathogenic 4

  • p.Arg85Cys Multiple submitters Cardiovascular phenotype
  • p.Arg85His Multiple submitters generalized epilepsy with febrile seizures plus, type 1 ⚠
  • p.Ser116fs Multiple submitters Cardiovascular phenotype
  • p.Val158Met Multiple submitters Brugada syndrome 5 ⚠

Likely pathogenic 6

Conflicting classifications of pathogenicity 63

Benign 33

Benign/Likely benign 35

  • c.207+13C>T Multiple submitters Brugada syndrome 5
  • c.207+19C>T Multiple submitters Brugada syndrome 5
  • c.207+7G>A Multiple submitters Brugada syndrome 5
  • c.208-14C>T Multiple submitters Brugada syndrome 5
  • c.208-4del Multiple submitters Cardiovascular phenotype
  • c.448+167C>G Multiple submitters Brugada syndrome 5
  • c.448+230C>T Multiple submitters Brugada syndrome 5
  • c.448+299A>G Multiple submitters Brugada syndrome 5
  • c.448+29C>T Multiple submitters Brugada syndrome 5
  • c.448+301G>A Multiple submitters Brugada syndrome 5
  • c.448+314C>A Multiple submitters Brugada syndrome 5
  • c.448+320C>T Multiple submitters Brugada syndrome 5
  • c.448+321G>A Multiple submitters developmental and epileptic encephalopathy, 52
  • c.448+337G>A Multiple submitters Brugada syndrome 5
  • c.448+48A>C Multiple submitters Brugada syndrome 5
  • c.448+8G>C Multiple submitters Brugada syndrome 5
  • c.590+16G>A Multiple submitters Brugada syndrome 5
  • c.591-14C>A Multiple submitters generalized epilepsy with febrile seizures plus, type 1
  • c.-95C>T Multiple submitters Brugada syndrome 5
  • c.-9C>A Multiple submitters Brugada syndrome 5
  • c.*401G>A Multiple submitters Brugada syndrome 5
  • c.*527T>C Multiple submitters Brugada syndrome 5
  • p.Arg89= Multiple submitters developmental and epileptic encephalopathy, 52
  • p.Asn196= Multiple submitters Cardiovascular phenotype
  • p.Asp100= Multiple submitters Cardiovascular phenotype
  • p.Cys21= Multiple submitters Cardiovascular phenotype
  • p.Gly117= Multiple submitters Cardiovascular phenotype
  • p.Ser116= Multiple submitters Cardiovascular phenotype
  • p.Tyr164= Multiple submitters Cardiovascular phenotype
  • p.Val138Ile Multiple submitters Cardiovascular phenotype
  • c.*102A>T Single submitter Brugada syndrome 5
  • c.*202C>T Single submitter Brugada syndrome 5
  • c.*447A>G Single submitter Brugada syndrome 5
  • c.*454C>A Single submitter Brugada syndrome 5
  • c.*534C>T Single submitter Brugada syndrome 5

Likely benign 158

Uncertain significance 367

Showing the top 300 by review status; the full set is in the sitemap.