Associated disorders

The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). Additionally, the TMEM43 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 7 (EDMD7) (MedGen UID: 765974).

TMEM43 pathogenic variants cause arrhythmogenic right ventricular dysplasia-5 (ARVD5), which is prevelant in Newfoundland due to a founder mutation but is very rare in other populations. Test sensitivity is likely low outside of Newfoundland. Pathogenic TMEM43 variants are a rare cause of ARVC and are associated with an unknown percentage of clinical cases of DCM and EDMD-like myopathy.

TMEM43 encodes transmembrane protein 43, also known as LUMA, an inner nuclear membrane-localized protein that interacts with both emerin and lamin. TMEM43 may function as an organizer of the nuclear lamina.

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
TMEM43 NM_024334.2