Gene Information
sodium voltage-gated channel alpha subunit 5 [Source:HGNC Symbol;Acc:HGNC:10593]
SCN5A variants are associated with 8 diseases including familial isolated dilated cardiomyopathy and familial atrial fibrillation and 6 others, with 75 documented clinical phenotypes.
The SCN5A gene is associated with 8 medical conditions, including:
familial isolated dilated cardiomyopathy
MONDO:0700335
familial atrial fibrillation
MONDO:0018054
familial long QT syndrome
MONDO:0019171
progressive familial heart block
MONDO:0019490
atrial standstill
MONDO:0015281
Brugada syndrome
MONDO:0015263
familial sick sinus syndrome
MONDO:0012061
paroxysmal familial ventricular fibrillation
MONDO:0100234
Research has identified 75 phenotypic features associated with SCN5A variants:
Complete right bundle branch block
HP:0011712
Syncope
HP:0001279
Juvenile onset
HP:0003621
Atrial fibrillation
HP:0005110
Atrioventricular block
HP:0001678
Left ventricular hypertrophy
HP:0001712
Supraventricular tachycardia
HP:0004755
Ventricular fibrillation
HP:0001663
Ventricular escape rhythm
HP:0005155
Dilated cardiomyopathy
HP:0001644
Atrioventricular block
HP:0001678
Childhood onset
HP:0011463
Reduced systolic function
HP:0006673
Right ventricular dilatation
HP:0005133
Left atrial enlargement
HP:0031295
ClinVar contains 10 variants associated with SCN5A. Below are some notable variants:
NM_000335.5(SCN5A):c.2195T>A (p.Leu732His)
Uncertain significanceVCV004528056
Review: criteria provided, single submitter
NM_000335.5(SCN5A):c.5519C>T (p.Pro1840Leu)
Uncertain significanceVCV004527781
Review: criteria provided, single submitter
NM_000335.5(SCN5A):c.5404C>G (p.Pro1802Ala)
Uncertain significanceVCV004527559
Review: criteria provided, single submitter
NM_000335.5(SCN5A):c.1079G>T (p.Trp360Leu)
Uncertain significanceVCV004527456
Review: criteria provided, single submitter
NM_000335.5(SCN5A):c.762G>A (p.Met254Ile)
Uncertain significanceVCV004527258
Review: criteria provided, single submitter
There are 798 publications about SCN5A indexed in PubMed. Below are some recent papers:
Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome.
O'Neill MJ, Ma JG, Aldridge JL
PMID: 41251004
•
2025 Nov 18
•
Eur Heart J
Brugada Syndrome: an exemplar for the genomic basis of sudden death.
Griffiths RLM, Walsh R, Futema M
PMID: 41238804
•
2025 Nov 14
•
Eur J Hum Genet
Coupling of USP10 de-ubiquitination and chaperone-mediated autophagy causes cardiac sodium channel degradation and cardiac arrhythmias.
Xiong H, Guo D, Zhou Z
PMID: 41213870
•
2025 Nov 10
•
Cardiovasc Res
Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia: A Case Report.
Steigleder LJ, Pieper T, Kluger GJ
PMID: 41183540
•
2025 Nov 10
•
Neuropediatrics
Clustered Regularly Interspaced Short Palindromic Repeats Genome Editing for Cardiovascular Disease: The Future Is Here.
Sami N, Parikh MA, Frishman WH
PMID: 41166658
•
2025 Oct 15
•
Cardiol Rev
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Last updated: 11/20/2025