Associated disorders

The CCDC78 gene is associated with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).

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CCDC78 is a rare cause of CNM and the percentage of clinical cases of CNM attributed to CCDC78 is unknown.

CCDC78 encodes the Coiled-coil domain-containing protein 78. Although the function of CCDC78 is unknown, it has been shown to be expressed in muscle and localized to the junction of the T-tubule and terminal sarcoplasmic reticulum. Disturbance of this structure is a known cause of centronuclear myopathy.

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
CCDC78 NM_001031737.2