Sugi Variant

Sugi Variant/SCN8A

SCN8A — 2416 ClinVar variants

All ClinVar germline SCN8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1076 flagged for review →

123 Pathogenic · 46 Pathogenic/Likely pathogenic · 196 Likely pathogenic · 145 Conflicting · 68 Benign · 47 Benign/Likely benign · 715 Likely benign · 1076 Uncertain significance

Full SCN8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1076

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 8

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

Predictors agree, ClinVar conflicts 79

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

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 664

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 664

Predictors split 321

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 321

All SCN8A variants

Pathogenic 123

Pathogenic/Likely pathogenic 46

  • p.Ala1323Ser Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Ala1323Thr Multiple submitters SCN8A-related disorder
  • p.Ala1650Val Multiple submitters early-infantile DEE
  • p.Ala874Thr Multiple submitters SCN8A-related disorder
  • p.Ala982Val Multiple submitters seizures, benign familial infantile, 5 ⚠
  • p.Arg1309Ter Multiple submitters early-infantile DEE
  • p.Arg1617Leu Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Arg1626Cys Multiple submitters early-infantile DEE
  • p.Arg1626His Multiple submitters early-infantile DEE
  • p.Arg1820Ter Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Arg381Ter Multiple submitters
  • p.Arg847Ter Multiple submitters SCN8A-related disorder
  • p.Arg850Gln Multiple submitters early-infantile DEE
  • p.Arg850Gly Multiple submitters SCN8A-related disorder
  • p.Arg850Ter Multiple submitters Autosomal dominant SCN8A-related disorders
  • p.Asp1465Asn Multiple submitters early-infantile DEE
  • p.Asp756Asn Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Cys324Tyr Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Gln1470Arg Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Gln1501Ter Multiple submitters intellectual disability
  • p.Glu903fs Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Ile142Val Multiple submitters SCN8A-related disorder
  • p.Ile1464Thr Multiple submitters early-infantile DEE
  • p.Ile1479Thr Multiple submitters early-infantile DEE
  • p.Ile1627Asn Multiple submitters developmental and epileptic encephalopathy
  • p.Ile1762Leu Multiple submitters cognitive impairment with or without cerebellar ataxia
  • p.Ile240Val Multiple submitters early-infantile DEE ⚠
  • p.Ile763Val Multiple submitters early-infantile DEE ⚠
  • p.Ile868Thr Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Leu1332Pro Multiple submitters early-infantile DEE
  • p.Leu1621Trp Multiple submitters developmental and epileptic encephalopathy
  • p.Met149Val Multiple submitters seizures, benign familial infantile, 5
  • p.Met1529Val Multiple submitters epilepsy
  • p.Met1600Ile Multiple submitters early-infantile DEE ⚠
  • p.Met1869Thr Multiple submitters early-infantile DEE
  • p.Ser978Gly Multiple submitters developmental and epileptic encephalopathy, 13
  • p.Thr1482Asn Multiple submitters undetermined early-onset epileptic encephalopathy
  • p.Thr1787Asn Multiple submitters early-infantile DEE
  • p.Thr767Ile Multiple submitters early-infantile DEE
  • p.Trp1184Ter Multiple submitters SCN8A-related disorder
  • p.Val1315Ala Multiple submitters SCN8A-related disorder
  • p.Val1315Leu Multiple submitters early-infantile DEE
  • p.Val1462Ile Multiple submitters early-infantile DEE
  • p.Val409Ala Multiple submitters cognitive impairment with or without cerebellar ataxia
  • p.Val891Met Multiple submitters early-infantile DEE
  • p.Val892Ala Multiple submitters early-infantile DEE

Likely pathogenic 196

Conflicting classifications of pathogenicity 145

Benign 68

Benign/Likely benign 47

Likely benign 715

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

Uncertain significance 1076

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