Associated disorders

The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

Pathogenic VCL variants are associated with 1% of clinical cases of DCM. The percentage of pathogenic VCL variants associated with HCM cases is unknown.

The VCL gene encodes vinculin, a cytoskeletal protein associated with cell-cell and cell-matrix junctions. Vinculin is ubiquitously expressed, and it is localized in the intercalated discs and in the principal sites of contractile-force transmission. This suggests vinculin plays a role in cardiac structure and contractile-force dynamics.

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
VCL NM_014000.2