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  • Alternate specimens:
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KCND3

Alias

BRGDA9; KCND3L; KCND3S; KSHIVB; KV4.3; SCA19; SCA22

Associated disorders

The KCND3 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528) and atrial fibrillation (PMID: 23400760). Other KCND3-related condtions have been reported (OMIM: 605411).

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KCND3

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Invitae tests that include this gene:

Pathogenic KCND3 variants are associated with an unknown percentage of clinical cases of BrS and atrial fibrillation.

The KCND3 gene encodes the pore-forming subunit of a potassium voltage-gated ion channel, which is involved in mediating transient outward potassium current in cardiac tissue.

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
KCND3 NM_004980.4