SCN5A

Gene Symbol:
SCN5A
HGNC:10593
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p22.2
Filters:

Arrhythmogenic right ventricular cardiomyopathy classifications

arrhythmogenic right ventricular cardiomyopathy
AD
06/06/2019
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

There is limited evidence that SCN5A is associated with ARVC. Screening of ARVC patient cohorts f... Read more

Atrial standstill classifications

atrial standstill
Submitted as: Orphanet:1344
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Brugada syndrome classifications

Brugada syndrome
Submitted as: Orphanet:130
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Brugada syndrome 1 classifications

Brugada syndrome 1
Submitted as: OMIM:601144
AD
03/02/2021
Evaluated
03/31/2021
Submitted
Brugada syndrome 1
Submitted as: OMIM:601144
AD
04/02/2018
Evaluated
12/24/2020
Submitted
Brugada syndrome 1
Submitted as: OMIM:601144
AD
04/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
AD
03/13/2024
Evaluated
07/02/2025
Submitted
Brugada syndrome 1
Submitted as: OMIM:601144
AD
06/18/2023
Evaluated
11/30/2023
Submitted

Cardiac rhythm disease classifications

cardiac rhythm disease
AD
10/08/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Variants in SCN5A have been widely reported in a collection of cardiac rhythm phenotypes... Read more

Catecholaminergic polymorphic ventricular tachycardia classifications

catecholaminergic polymorphic ventricular tachycardia
AD
01/20/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

SCN5A was evaluated for autosomal dominant catecholaminergic polymorphic ventricular tachycardia... Read more

Congenital heart disease classifications

congenital heart disease
AD
12/09/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

SCN5A was first reported in relation to autosomal dominant congenital heart disease in 2... Read more

Dilated cardiomyopathy classifications

dilated cardiomyopathy
AD
05/30/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

SCN5A was originally evaluated for DCM by ClinGen DCM GCEP on October 9, 2020. Evidence of the as... Read more

Dilated cardiomyopathy 1E classifications

dilated cardiomyopathy 1E
Submitted as: OMIM:601154
AD
11/09/2021
Evaluated
08/19/2023
Submitted
dilated cardiomyopathy 1E
Submitted as: OMIM:601154
AD
04/20/2022
Evaluated
11/30/2023
Submitted
dilated cardiomyopathy 1E
AD
03/26/2024
Evaluated
07/02/2025
Submitted

Familial atrial fibrillation classifications

familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial isolated dilated cardiomyopathy classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial long QT syndrome classifications

familial long QT syndrome
AD
09/25/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

SCN5A encodes the alpha subunit of the cardiac voltage-gated sodium channel. Wang et al. were the... Read more

Familial sick sinus syndrome classifications

familial sick sinus syndrome
Submitted as: Orphanet:166282
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Long QT syndrome 3 classifications

long QT syndrome 3
Submitted as: OMIM:603830
AD
04/02/2018
Evaluated
12/24/2020
Submitted
AD
03/13/2024
Evaluated
07/02/2025
Submitted
long QT syndrome 3
Submitted as: OMIM:603830
AD
01/17/2023
Evaluated
11/30/2023
Submitted

Paroxysmal familial ventricular fibrillation classifications

paroxysmal familial ventricular fibrillation
Submitted as: Orphanet:228140
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Progressive familial heart block classifications

progressive familial heart block
Submitted as: Orphanet:871
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Progressive familial heart block, type 1A classifications

progressive familial heart block, type 1A
Submitted as: OMIM:113900
AD
08/20/2020
Evaluated
03/31/2021
Submitted
progressive familial heart block, type 1A
Submitted as: OMIM:113900
SD
04/02/2018
Evaluated
12/24/2020
Submitted

Short QT syndrome classifications

AD
10/27/2020
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

SCN5A encodes the alpha subunit of the cardiac voltage-gated sodium channel. Genetic evidence su... Read more

Sick sinus syndrome 1 classifications

sick sinus syndrome 1
Submitted as: OMIM:608567
AR
04/05/2023
Evaluated
11/30/2023
Submitted
sick sinus syndrome 1
Submitted as: OMIM:608567
AD
04/05/2023
Evaluated
11/30/2023
Submitted

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