Associated disorders

The MVK gene is associated with autosomal recessive mevalonate kinase deficiency which encompasses hyper-IgD syndrome (MedGen UID: 140768) and autosomal recessive mevalonic aciduria (MedGen UID: 368373). In addition, the MVK gene is associated with autosomal dominant porokeratosis (MedGen UID: 401352).

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Pathogenic variants in the MVK gene are the only known cause of autosomal recessive hyper-IgD syndrome and mevalonic aciduria. The percentage of autosomal dominant porokeratosis that is caused by pathogenic variants identified in MVK is unknown.

The MVK gene encodes the mevalonate kinase (MVK) enzyme. This enzyme converts mevalonic acid to mevalonate-5-phosphate which is the second step in the cholesterol biosynthesis pathway. Cholesterol is converted into steroid hormones and bile acids as well as being a structural component of cell membranes. Steroid hormones are required for development and reproduction while bile acids are involved in fat digestion. MVK is also involved in the production of other substances, called isoprenoids, that are necessary for cellular functions such as cell growth, cell differentiation, formation of the cytoskeleton, gene expression, protein production and modification.

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
MVK NM_000431.3