Associated disorders

The SLMAP gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 23064965).

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

The SLMAP gene encodes a sarcolemmal membrane-associated protein, which is one of the components of the T-tubules and sarcoplasmic reticulum. The function of SLMAP in association with cardiac pathophysiciology is unknown, but it is suspected to cause Brugada syndrome through impairment of intracellular trafficking of the cardiac sodium channel.

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
SLMAP NM_007159.2