Associated disorders

The MYH6 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant atrial septal defects (MedGen UID:371845), hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484), and dilated cardiomyopathy (DCM) (MedGen UID: 412965). Additional MYH6-related conditions have been reported (OMIM: 160710).

MYH6 is responsible for an unknown percentage of clinical cases of atrial septal defects, HCM, and DCM.

The MYH6 gene encodes an alpha heavy chain subunit of the protein myosin, which interacts with actin to form the sarcomere, the major functional component of the contractile system in cardiac muscle. MYH6 has also been shown to regulate cardiac growth and expression in response to stress and hormone signaling by increasing the expression of the MYH7 gene.

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
MYH6 NM_002471.3