SCN1B (Q07699) variants and mutations
SCN1B (also known as Q07699) is a human protein-coding gene encoding a sodium channel regulatory subunit beta-1 protein. The beta-1 subunit of voltage-gated sodium channels, which regulates channel activity and cell adhesion. Pathogenic variants cause several forms of epilepsy, while associations with cardiac arrhythmias have also been reported. This analysis covers 498 SCN1B variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy, 52, and atrial fibrillation, familial, 13. Example SCN1B variants include M1?, M1I, and M1L.
Variant analysis overview
- Gene: SCN1B
- Protein: Q07699
- UniProt accession: Q07699
- Organism: Homo sapiens
- Variants analyzed: 498
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 362 unspecified-consequence records; 76 missense variants; 53 synonymous variants; 10 frameshift variants; 1 in-frame deletions; 2 substitution
- Prediction scores: 453 variants have prediction scores (91% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy, 52, atrial fibrillation, familial, 13, Brugada syndrome 5, progressive familial heart block, Brugada syndrome, genetic developmental and epileptic encephalopathy, Abnormality of the cardiovascular system, Dravet syndrome, conduction system disorder, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalo, developmental and epileptic encephalopathy.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 4 post-translational modification sites.
- Structural context: 305 variants have structural context.
- PTM context: 5 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to SCN1B
- Developmental and epileptic encephalopathy genes and variants
- Generalized epilepsy with febrile seizures plus genes and variants
- Brugada syndrome genes and variants
- Familial atrial fibrillation genes and variants
- Progressive familial heart block genes and variants
- Genetic developmental and epileptic encephalopathy genes and variants
Notable SCN1B variants
Examples include M1?, M1I, M1L, M1T, G2V, G2W, G2R, G2A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV11340
- M1I (p.Met1Ile), rs2064208424, ClinGen CA405327779, ClinVar RCV003623809, ClinGen CA405327780, ESM-1b 1.00, AlphaMissense 0.24, Pathogenic, Brugada syndrome 5
- M1L (p.Met1Leu), rs1375857363, ClinGen CA405327765, ClinVar RCV000578768, ClinVar RCV001215961, ESM-1b 1.00, AlphaMissense 0.11, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- M1T (p.Met1Thr), rs2151745332, ClinGen CA405327774, ClinVar RCV001552076, ClinVar RCV003771691, ESM-1b 1.00, AlphaMissense 0.19, Conflicting interpretations, Brugada syndrome 5; not provided
- G2V (p.Gly2Val), rs1402221712, ClinGen CA405327792, ClinVar RCV003511254, ClinVar RCV004985412, REVEL 0.52, ESM-1b 0.00, Uncertain significance, not provided; Cardiovascular phenotype; Brugada syndrome 5
- G2W (p.Gly2Trp), gnomAD 19-35030824-G-T, REVEL 0.48, ESM-1b 0.00
- G2R (p.Gly2Arg), gnomAD 19-35030824-G-A, REVEL 0.48, ESM-1b 0.00
- G2A (p.Gly2Ala), gnomAD 19-35030825-G-C, REVEL 0.28, ESM-1b 0.00
- G2E (p.Gly2Glu), gnomAD 19-35030825-G-A, REVEL 0.47, ESM-1b 0.00
- G2G (p.Gly2Gly), gnomAD 19-35030826-G-C, CADD 11.00
- R3M (p.Arg3Met), rs2151745336, ClinGen CA405327798, ClinVar RCV001756340, ClinVar RCV002370274, REVEL 0.30, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided; Brugada syndrome 5
- R3S (p.Arg3Ser), 1000Genomes rs533710683, REVEL 0.17, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- R3R (p.Arg3Arg), gnomAD 19-35030827-A-C, CADD 13.40
- R3G (p.Arg3Gly), gnomAD 19-35030827-A-G, REVEL 0.24, ESM-1b 0.00
- R3W (p.Arg3Trp), gnomAD 19-35030827-A-T, REVEL 0.30, ESM-1b 0.00
- R3K (p.Arg3Lys), gnomAD 19-35030828-G-A, REVEL 0.22, ESM-1b 0.00
- R3T (p.Arg3Thr), gnomAD 19-35030828-G-C, REVEL 0.22, ESM-1b 0.00
- L4L (p.Leu4Leu), gnomAD 19-35030830-C-T, CADD 12.50
- L4V (p.Leu4Val), gnomAD 19-35030830-C-G, REVEL 0.32, ESM-1b 0.00
- L4M (p.Leu4Met), gnomAD 19-35030830-C-A, REVEL 0.34, ESM-1b 0.80
- L4P (p.Leu4Pro), gnomAD 19-35030831-T-C, REVEL 0.75, ESM-1b 0.94
- L4Q (p.Leu4Gln), gnomAD 19-35030831-T-A, REVEL 0.61, ESM-1b 1.00
- L5M (p.Leu5Met), rs1064796847, ClinGen CA16620820, ClinVar RCV000478866, ClinVar RCV001851271, REVEL 0.34, ESM-1b 0.75, Uncertain significance, not provided; Cardiovascular phenotype; Brugada syndrome 5
- L5W (p.Leu5Trp), gnomAD 19-35030831-TG-T, CADD 27.20
- L5L (p.Leu5Leu), gnomAD 19-35030833-C-T, CADD 13.20
- L5V (p.Leu5Val), gnomAD 19-35030833-C-G, REVEL 0.27, ESM-1b 0.00
- L5P (p.Leu5Pro), gnomAD 19-35030834-T-C, REVEL 0.61, ESM-1b 1.00
- L5R (p.Leu5Arg), gnomAD 19-35030834-T-G, REVEL 0.71, ESM-1b 0.78
- L5Q (p.Leu5Gln), gnomAD 19-35030834-T-A, REVEL 0.68, ESM-1b 1.00
- A6P (p.Ala6Pro), rs1308862852, ClinGen CA405327810, ClinVar RCV001211790, TOPMed rs1308862852, REVEL 0.61, ESM-1b 0.00, Uncertain significance, Brugada syndrome 5
- A6V (p.Ala6Val), rs2064208550, ClinGen CA405327814, ClinVar RCV002407874, ClinVar RCV003328701, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided
- A6S (p.Ala6Ser), gnomAD 19-35030836-G-T, REVEL 0.25, ESM-1b 0.00
- A6T (p.Ala6Thr), gnomAD 19-35030836-G-A, REVEL 0.33, ESM-1b 0.00
- A6D (p.Ala6Asp), gnomAD 19-35030837-C-A, REVEL 0.66, ESM-1b 1.00
- A6G (p.Ala6Gly), gnomAD 19-35030837-C-G, REVEL 0.40, ESM-1b 0.00
- A6A (p.Ala6Ala), gnomAD 19-35030838-C-A, CADD 13.10
- L7* (p.Leu7Ter), rs2151745345, ClinGen CA405327819, ClinVar RCV001575594, Ensembl rs2151745345, CADD 23.50, Uncertain significance
- L7F (p.Leu7Phe), Ensembl rs1356383677, REVEL 0.36, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- L7I (p.Leu7Ile), rs921444794, ClinGen CA405327815, ClinVar RCV002304738, ClinVar RCV004779283, REVEL 0.26, ESM-1b 0.13, Uncertain significance, Brugada syndrome 5; not provided
- L7L (p.Leu7Leu), rs921444794, gnomAD 19-35030839-T-C, CADD 13.40
- L7V (p.Leu7Val), gnomAD 19-35030839-T-G, REVEL 0.22, ESM-1b 0.00
- L7S (p.Leu7Ser), gnomAD 19-35030840-T-C, REVEL 0.49, ESM-1b 1.00
- V8A (p.Val8Ala), rs786205833, ClinGen CA302171, NCI-TCGA Cosmic COSV9938, cosmic curated COSV99386, REVEL 0.29, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided; Brugada syndrome 5
- V8L (p.Val8Leu), rs786205832, ClinGen CA302169, ClinVar RCV000171047, ClinVar RCV003765068, REVEL 0.26, ESM-1b 0.00, Uncertain significance, not provided; Brugada syndrome 5
- V8W (p.Val8Trp), gnomAD 19-35030840-TA-T, CADD 18.80
- V8S (p.Val8Ser), gnomAD 19-35030840-TAGTG, CADD 26.20
- V8M (p.Val8Met), gnomAD 19-35030842-G-A, REVEL 0.22, ESM-1b 0.27
- V8E (p.Val8Glu), gnomAD 19-35030843-T-A, REVEL 0.59, ESM-1b 1.00
- V8G (p.Val8Gly), gnomAD 19-35030843-T-G, REVEL 0.63, ESM-1b 0.52
- V8V (p.Val8Val), gnomAD 19-35030844-G-T, CADD 12.40
- V9S (p.Val9Ser), gnomAD 19-35030843-TG-T, CADD 24.90
- V9F (p.Val9Phe), gnomAD 19-35030845-G-T, REVEL 0.57, ESM-1b 0.00
- V9I (p.Val9Ile), gnomAD 19-35030845-G-A, REVEL 0.23, ESM-1b 0.00
- V9L (p.Val9Leu), gnomAD 19-35030845-G-C, REVEL 0.32, ESM-1b 0.00
- V9G (p.Val9Gly), gnomAD 19-35030846-T-G, REVEL 0.60, ESM-1b 0.45
- V9D (p.Val9Asp), gnomAD 19-35030846-T-A, REVEL 0.65, ESM-1b 1.00
- V9A (p.Val9Ala), gnomAD 19-35030846-T-C, REVEL 0.33, ESM-1b 0.00
- V9V (p.Val9Val), gnomAD 19-35030847-C-T, CADD 13.70
- G10D (p.Gly10Asp), rs1555720384, ClinGen CA405327834, ClinVar RCV000536761, Ensembl rs1555720384, REVEL 0.61, ESM-1b 1.00, Uncertain significance, Brugada syndrome 5
- G10R (p.Gly10Arg), 1000Genomes rs72552027, ExAC rs72552027, gnomAD rs72552027, REVEL 0.58, ESM-1b 0.78, Benign
- G10S (p.Gly10Ser), rs72552027, ClinGen CA302173, ClinVar RCV000171049, ClinVar RCV000254455, REVEL 0.25, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- G10A (p.Gly10Ala), gnomAD 19-35030846-TC-T, CADD 25.10
- G10C (p.Gly10Cys), gnomAD 19-35030848-G-T, REVEL 0.36, ESM-1b 0.00
- G10V (p.Gly10Val), gnomAD 19-35030849-G-T, REVEL 0.40, ESM-1b 0.00
- G10G (p.Gly10Gly), gnomAD 19-35030850-C-G, CADD 15.50
- A11T (p.Ala11Thr), rs2064208679, ClinGen CA405327837, ClinVar RCV001211162, Ensembl rs2064208679, REVEL 0.18, ESM-1b 0.09, Uncertain significance, Brugada syndrome 5
- A11V (p.Ala11Val), TOPMed rs2064208694, gnomAD rs2064208694, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Brugada syndrome 5
- A11G (p.Ala11Gly), gnomAD 19-35030848-GGC-G, CADD 26.50
- A11P (p.Ala11Pro), gnomAD 19-35030851-G-C, REVEL 0.65, ESM-1b 1.00
- A11S (p.Ala11Ser), gnomAD 19-35030851-G-T, REVEL 0.16, ESM-1b 0.00
- A11E (p.Ala11Glu), gnomAD 19-35030852-C-A, REVEL 0.55, ESM-1b 1.00
- A11A (p.Ala11Ala), gnomAD 19-35030853-G-T, CADD 12.40
- A12P (p.Ala12Pro), gnomAD 19-35030854-G-C, REVEL 0.64, ESM-1b 1.00
- A12S (p.Ala12Ser), gnomAD 19-35030854-G-T, REVEL 0.17, ESM-1b 0.00
- A12T (p.Ala12Thr), gnomAD 19-35030854-G-A, REVEL 0.15, ESM-1b 0.17
- A12G (p.Ala12Gly), gnomAD 19-35030855-C-G, REVEL 0.20, ESM-1b 0.00
- A12V (p.Ala12Val), gnomAD 19-35030855-C-T, REVEL 0.12, ESM-1b 0.00
- A12E (p.Ala12Glu), gnomAD 19-35030855-C-A, REVEL 0.59, ESM-1b 1.00
- A12A (p.Ala12Ala), gnomAD 19-35030856-A-G, CADD 13.90
- L13P (p.Leu13Pro), rs786205834, ClinGen CA205080, ClinVar RCV000192329, ClinVar RCV000687916, REVEL 0.77, ESM-1b 1.00, Conflicting interpretations, Developmental and epileptic encephalopathy, 52; Brugada syndrome 5; Atrial fibri
- L13M (p.Leu13Met), gnomAD 19-35030857-C-A, REVEL 0.35, ESM-1b 1.00
- L13L (p.Leu13Leu), gnomAD 19-35030857-C-T, CADD 14.20
- L13Q (p.Leu13Gln), gnomAD 19-35030858-T-A, REVEL 0.70, ESM-1b 1.00
- L13R (p.Leu13Arg), gnomAD 19-35030858-T-G, REVEL 0.79, ESM-1b 1.00
- V14A (p.Val14Ala), rs2151745962, ClinGen CA405327869, ClinVar RCV001550464, ClinVar RCV002568318, ESM-1b 0.00, AlphaMissense 0.15, Uncertain significance, not provided; Brugada syndrome 5
- V14M (p.Val14Met), gnomAD 19-35030860-G-A, REVEL 0.50, ESM-1b 0.01
- V14L (p.Val14Leu), gnomAD 19-35030860-G-T, REVEL 0.39, ESM-1b 0.00
- S15Y (p.Ser15Tyr), TOPMed rs1392159192, gnomAD rs1392159192, REVEL 0.48, ESM-1b 0.23
- S15P (p.Ser15Pro), gnomAD 19-35032530-T-C, REVEL 0.53, ESM-1b 0.36
- A17D (p.Ala17Asp), cosmic curated COSV52893, ESM-1b 1.00, AlphaMissense 0.46
- A17G (p.Ala17Gly), rs2064220382, ClinGen CA405327887, ClinVar RCV004093860, REVEL 0.36, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- A17V (p.Ala17Val), rs2064220382, ClinGen CA405327888, ClinVar RCV002335986, ClinVar RCV003621633, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Brugada syndrome 5
- C18* (p.Cys18Ter), gnomAD rs1005312276, CADD 31.00, Likely benign
- C18C (p.Cys18Cys), rs1005312276, gnomAD 19-35032541-C-T, CADD 5.63
- G19R (p.Gly19Arg), rs771386831, ClinGen CA9371945, cosmic curated COSV52894, ClinVar RCV003480310, REVEL 0.77, ESM-1b 0.00, Uncertain significance, not provided; Brugada syndrome 5
- G19G (p.Gly19Gly), gnomAD 19-35032544-G-C, CADD 9.26
- G20A (p.Gly20Ala), gnomAD rs1323590530, ESM-1b 0.00, AlphaMissense 0.29
- G20D (p.Gly20Asp), NCI-TCGA Cosmic COSV5289, cosmic curated COSV52895, gnomAD rs1323590530, REVEL 0.74, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- G20S (p.Gly20Ser), rs1474025001, ClinGen CA405327902, ClinVar RCV002292993, ClinVar RCV003621622, REVEL 0.51, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided; Brugada syndrome 5
- G20G (p.Gly20Gly), gnomAD 19-35032547-C-T, CADD 13.70
- C21* (p.Cys21Ter), ExAC rs200339565, TOPMed rs200339565, gnomAD rs200339565, Benign
- C21S (p.Cys21Ser), NCI-TCGA Cosmic COSV5289, cosmic curated COSV52893, ESM-1b 1.00, AlphaMissense 0.99, Variant assessed as somatic; moderate impact.
- C21L (p.Cys21Leu), rs1568348569, gnomAD 19-35032541-C-CG, CADD 32.00
- C21Y (p.Cys21Tyr), gnomAD 19-35032549-G-A, REVEL 0.88, ESM-1b 1.00
- C21C (p.Cys21Cys), rs200339565, gnomAD 19-35032550-C-T, CADD 2.95
- V22L (p.Val22Leu), ExAC rs745578106, TOPMed rs745578106, gnomAD rs745578106, REVEL 0.68, ESM-1b 0.00, Uncertain significance
- V22M (p.Val22Met), rs745578106, ClinGen CA405327916, NCI-TCGA Cosmic COSV5289, cosmic curated COSV52893, REVEL 0.70, ESM-1b 0.50, Uncertain significance, Brugada syndrome 5; Cardiovascular phenotype
- V22A (p.Val22Ala), gnomAD 19-35032552-T-C, REVEL 0.46, ESM-1b 0.63
- V22V (p.Val22Val), rs769410262, gnomAD 19-35032553-G-A, CADD 12.50
- E23* (p.Glu23Ter), ExAC rs775096415, gnomAD rs775096415
- E23D (p.Glu23Asp), rs762553865, ClinGen CA9371950, ClinVar RCV000622208, ClinVar RCV003621563, REVEL 0.64, ESM-1b 0.00, Uncertain significance, not provided; Brugada syndrome 5
- E23K (p.Glu23Lys), ExAC rs775096415, gnomAD rs775096415, REVEL 0.80, ESM-1b 0.00, Uncertain significance, Brugada syndrome 5
- V24E (p.Val24Glu), rs2514232917, ClinGen CA405327930, ClinVar RCV003510744, ESM-1b 1.00, AlphaMissense 0.94, Uncertain significance, Brugada syndrome 5
- V24W (p.Val24Trp), gnomAD 19-35032555-AG-A, CADD 26.20
- V24V (p.Val24Val), gnomAD 19-35032559-G-A, CADD 11.70
- D25N (p.Asp25Asn), rs786205837, ClinGen CA302190, cosmic curated COSV10500, ClinVar RCV000171059, REVEL 0.66, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not provided; Brugada syndrome 5
- D25G (p.Asp25Gly), gnomAD 19-35032558-T-TG, CADD 32.00
- D25H (p.Asp25His), gnomAD 19-35032560-G-C, REVEL 0.78, ESM-1b 0.00
- S26* (p.Ser26Ter), ExAC rs768653839, TOPMed rs768653839, gnomAD rs768653839, Uncertain significance
- S26A (p.Ser26Ala), gnomAD rs1193324035, REVEL 0.69, ESM-1b 0.57
- S26L (p.Ser26Leu), rs768653839, ClinGen CA9371951, NCI-TCGA Cosmic COSV5289, cosmic curated COSV52893, REVEL 0.84, ESM-1b 1.00, Uncertain significance, Generalized epilepsy with febrile seizures plus, type 1; Developmental and epile
- S26S (p.Ser26Ser), rs774401364, gnomAD 19-35032565-G-A, CADD 3.35
- E27* (p.Glu27Ter), Ensembl rs1555720582
- T28A (p.Thr28Ala), rs786205838, ClinGen CA302192, ClinVar RCV000171060, ClinVar RCV001350746, REVEL 0.79, ESM-1b 0.76, Uncertain significance, Atrial fibrillation, familial, 13; Generalized epilepsy with febrile seizures pl
- T28S (p.Thr28Ser), gnomAD 19-35032569-A-T, REVEL 0.75, ESM-1b 0.09
- T28I (p.Thr28Ile), gnomAD 19-35032570-C-T, REVEL 0.85, ESM-1b 0.46
- T28T (p.Thr28Thr), rs147616219, gnomAD 19-35032571-C-A, CADD 2.59
- E29* (p.Glu29Ter), ExAC rs767384862, TOPMed rs767384862, gnomAD rs767384862, CADD 39.00, Uncertain significance
- E29K (p.Glu29Lys), rs767384862, ClinGen CA9371954, ClinVar RCV000789049, ClinVar RCV001222654, REVEL 0.81, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Generalized epilepsy with febrile seizures plus, type
- E29Q (p.Glu29Gln), rs767384862, ClinGen CA302145, ClinVar RCV000171034, ClinVar RCV002444687, REVEL 0.73, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; not provided
- E29E (p.Glu29Glu), gnomAD 19-35032574-G-A, CADD 11.80
- E29D (p.Glu29Asp), gnomAD 19-35032574-G-T, REVEL 0.72, ESM-1b 0.66
- A30P (p.Ala30Pro), gnomAD 19-35032575-G-C, REVEL 0.92, ESM-1b 0.76
- A30D (p.Ala30Asp), gnomAD 19-35032576-C-A, REVEL 0.92, ESM-1b 1.00
- A30A (p.Ala30Ala), rs753994622, gnomAD 19-35032577-C-T, CADD 7.17
- V31A (p.Val31Ala), NCI-TCGA Cosmic COSV5289, cosmic curated COSV52893, ESM-1b 0.00, AlphaMissense 0.84, Variant assessed as somatic; moderate impact.
- V31L (p.Val31Leu), ESP rs368129661, ExAC rs368129661, TOPMed rs368129661, gnomAD rs368129661, REVEL 0.74, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- V31M (p.Val31Met), rs368129661, ClinGen CA9371956, cosmic curated COSV52894, ClinVar RCV002371236, REVEL 0.84, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Brugada syndrome 5
- V31V (p.Val31Val), gnomAD 19-35032580-G-T, CADD 9.67
- Y32C (p.Tyr32Cys), gnomAD rs995346461, REVEL 0.32, ESM-1b 0.00
- Y32Y (p.Tyr32Tyr), rs143453040, gnomAD 19-35032583-T-C, CADD 3.94
- G33E (p.Gly33Glu), NCI-TCGA Cosmic COSV9938, cosmic curated COSV99386, ESM-1b 1.00, AlphaMissense 0.91, Variant assessed as somatic; moderate impact.
- G33R (p.Gly33Arg), rs2064221039, ClinGen CA405327982, ClinVar RCV001337353, Ensembl rs2064221039, ESM-1b 1.00, AlphaMissense 0.94, Uncertain significance, Brugada syndrome 5
- G33V (p.Gly33Val), rs2151745999, ClinGen CA405327987, cosmic curated COSV10458, ClinVar RCV002013276, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Brugada syndrome 5
- G33G (p.Gly33Gly), rs752733582, gnomAD 19-35032586-G-T, CADD 11.00
- T35P (p.Thr35Pro), ExAC rs758494184, gnomAD rs758494184, ESM-1b 0.00, AlphaMissense 0.17
- F36L (p.Phe36Leu), gnomAD 19-35032595-C-A, REVEL 0.24, ESM-1b 0.00
- K37* (p.Lys37Ter), Ensembl rs1555720587, Uncertain significance
- K37Q (p.Lys37Gln), rs1555720587, ClinGen CA405328017, ClinVar RCV003622673, ESM-1b 0.11, AlphaMissense 0.55, Uncertain significance, Brugada syndrome 5
- K37T (p.Lys37Thr), cosmic curated COSV11340, ESM-1b 0.00, AlphaMissense 0.91
- L39F (p.Leu39Phe), gnomAD rs1395531462, ESM-1b 0.00, AlphaMissense 0.55
- L39I (p.Leu39Ile), cosmic curated COSV52893, ESM-1b 0.00, AlphaMissense 0.49
- C40* (p.Cys40Ter), Ensembl rs1555720589
- I41F (p.Ile41Phe), 1000Genomes rs72552028, ESP rs72552028, ExAC rs72552028, TOPMed rs72552028, REVEL 0.28, ESM-1b 1.00, Likely benign
- I41S (p.Ile41Ser), rs2064221304, ClinGen CA405328072, ClinVar RCV001201767, Ensembl rs2064221304, REVEL 0.24, ESM-1b 1.00, Uncertain significance, Brugada syndrome 5
- I41V (p.Ile41Val), rs72552028, ClinGen CA302147, ClinVar RCV001224112, ClinVar RCV001721099, REVEL 0.17, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not specified; not provided
- I41I (p.Ile41Ile), rs1383536551, gnomAD 19-35032610-C-T, CADD 14.00
- S42F (p.Ser42Phe), gnomAD 19-35032612-C-T, REVEL 0.18, ESM-1b 1.00
- C43* (p.Cys43Ter), Ensembl rs1555720592
- C43F (p.Cys43Phe), cosmic curated COSV52893, ESM-1b 1.00, AlphaMissense 1.00
- C43G (p.Cys43Gly), gnomAD 19-35032614-T-G, REVEL 0.83, ESM-1b 1.00
- K44* (p.Lys44Ter), Ensembl rs1555720593
- R45C (p.Arg45Cys), rs757554677, ClinGen CA9371961, NCI-TCGA Cosmic COSV5289, cosmic curated COSV52893, REVEL 0.63, ESM-1b 1.00, Uncertain significance, Atrial fibrillation, familial, 13; Brugada syndrome 5; Generalized epilepsy with
- R45H (p.Arg45His), rs180943300, ClinGen CA302149, cosmic curated COSV52894, ClinVar RCV000171036, REVEL 0.38, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Atrial fibrillation, familial, 13; Generalized epileps
- R45L (p.Arg45Leu), gnomAD 19-35032621-G-T, REVEL 0.39, ESM-1b 0.00
- R46C (p.Arg46Cys), rs371646049, ClinGen CA9371962, ClinVar RCV000529816, ClinVar RCV000732892, REVEL 0.66, ESM-1b 1.00, Uncertain significance, Brugada syndrome 5; not provided
- R46H (p.Arg46His), rs1024702691, ClinGen CA307703362, ClinVar RCV002046046, ClinVar RCV006372543, REVEL 0.77, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Brugada syndrome 5
- R46L (p.Arg46Leu), rs1024702691, ClinGen CA405328124, ClinVar RCV001321412, TOPMed rs1024702691, REVEL 0.74, ESM-1b 0.71, Uncertain significance, not provided; Brugada syndrome 5
- S47G (p.Ser47Gly), rs1460827220, ClinGen CA405328127, ClinVar RCV002994172, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Brugada syndrome 5
- S47R (p.Ser47Arg), TOPMed rs1460827220, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Brugada syndrome 5
- S47S (p.Ser47Ser), rs769535020, gnomAD 19-35032628-C-T, CADD 7.69
- E48* (p.Glu48Ter), gnomAD rs1293015271, Uncertain significance
- E48K (p.Glu48Lys), rs1293015271, ClinGen CA405328140, cosmic curated COSV52894, ClinVar RCV003081729, REVEL 0.29, ESM-1b 1.00, Uncertain significance, Brugada syndrome 5
- E48Q (p.Glu48Gln), NCI-TCGA Cosmic COSV5289, cosmic curated COSV52894, ESM-1b 0.00, AlphaMissense 0.97, Uncertain significance, Brugada syndrome 5
- E48D (p.Glu48Asp), gnomAD 19-35032631-G-T, REVEL 0.28, ESM-1b 0.00
- E48E (p.Glu48Glu), gnomAD 19-35032631-G-A, CADD 11.60
- N50S (p.Asn50Ser), Ensembl rs2151746021, ESM-1b 0.00, AlphaMissense 0.05
- N50N (p.Asn50Asn), rs147073518, gnomAD 19-35032637-C-T, CADD 6.76
- A51T (p.Ala51Thr), rs748788661, ClinGen CA9371965, NCI-TCGA Cosmic COSV5289, cosmic curated COSV52896, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype
- E52* (p.Glu52Ter), Ensembl rs1555720609
Public SCN1B analysis runs
- SCN1B analysis run — SCN1B (498 variants) — completed 2026-10-09