Associated disorders

The SCN3B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 413472) and atrial fibrillation (MedGen UID: 334469).

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Pathogenic SCN3B variants are associated with an unknown percentage of clinical cases of BrS.

The SCN3B gene encodes the beta unit of the sodium channel, voltage-gated, type III. Sodium channels control the flow of sodium ions in cardiac muscle 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.

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
SCN3B NM_018400.3