GENE REFERENCE / HGNC:10593

SCN5A

sodium voltage-gated channel alpha subunit 5

protein-coding gene3p22.2Gene information

What does this gene do?

The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively charged sodium atoms (sodium ions) into cells. The sodium channels containing proteins produced from the SCN5A gene are abundant in heart (cardiac) muscle cells and play key roles in these cells' ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the upper and lower chambers of the heart, and maintaining a normal heart rhythm.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
arrhythmogenic right ventricular cardiomyopathyMONDO:0016587 · Evaluated 2019-06-06	Autosomal dominant	LimitedArrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel
dilated cardiomyopathy 1EMONDO:0011003 · Evaluated 2026-03-04	Autosomal dominant	DefinitiveDilated Cardiomyopathy Gene Curation Expert Panel
SCN5A-related cardiac rhythm disorderMONDO:1010181 · Evaluated 2025-10-08	Autosomal dominant	DefinitiveHereditary Cardiovascular Disease Gene Curation Expert Panel
congenital heart diseaseMONDO:0005453 · Evaluated 2024-12-09	Autosomal dominant	DisputedCongenital Heart Disease Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 5,181
Submissions for variants in or overlapping this gene: 14,631
Submissions explicitly reporting this gene: 14,518
Alleles reported pathogenic / likely pathogenic: 591
VariationIDs with uncertain significance: 2,378
VariationIDs with conflicting classifications: 405

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SCN5A?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 591 alleles in SCN5A reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SCN5A.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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