GENE REFERENCE / HGNC:10596

SCN8A

sodium voltage-gated channel alpha subunit 8

protein-coding gene12q13.13Gene information

What does this gene do?

The SCN8A gene belongs to a family of genes that provide instructions for making sodium channels. These channels allow positively charged sodium (Na) atoms (sodium ions) to pass into cells; they play a key role in a cell's ability to generate and transmit electrical signals.

The SCN8A gene provides instructions for making one part (the alpha subunit) of a sodium channel called Na_v1.6. The alpha subunit forms the hole (pore) in the cell membrane through which sodium ions flow. Na_v1.6 channels are primarily found in the nerve cells (neurons) of the brain and spinal cord (central nervous system) and neurons that connect the central nervous system to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Na_v1.6 channels control the flow of sodium ions into cells, which makes it possible for neurons to communicate by generating and transmitting electrical signals.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-01. Source review: 2017-07.

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
complex neurodevelopmental disorderMONDO:0100038 · Evaluated 2018-07-18	Autosomal dominant	DefinitiveEpilepsy 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: 2,639
Submissions for variants in or overlapping this gene: 4,215
Submissions explicitly reporting this gene: 4,139
Alleles reported pathogenic / likely pathogenic: 397
VariationIDs with uncertain significance: 1,155
VariationIDs with conflicting classifications: 152

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 SCN8A?

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 397 alleles in SCN8A 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 SCN8A.

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

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