Associated disorders

The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), cardiac conduction disease (PMID: 18464934) and early infantile epileptic encephalopathy (PMID: 19710327).

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Pathogenic variants in SCN1B gene are associated with <5% of generalized epilepsy with febrile seizures, plus. Pathogenic SCN1B variants are also associated with an unknown percentage of clinical cases of BrS.

Voltage-gated sodium channels allow sodium ions into the cell after the application of a current, as in the case of neuron firing (depolarization). The SCN1B gene encodes the beta subunit of the sodium channel, voltage-gated, type I. Sodium channels control the flow of sodium ions in both muscle cells and neuronal cells. The electrical activity of cardiac muscle is controlled by the movement of potassium, sodium, and calcium ions across cardiac muscle cell membranes. Pathogenic variants in genes that disrupt the function of a sodium channel are associated with inherited cardiac arrhythmias and inherited epilepsy/seizure disorders.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SCN1B NM_199037.3, NM_001037.4