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  • Preferred specimen:
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  • Alternate specimens:
    DNA or saliva/assisted saliva
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TNNT2

Alias

CMD1D; CMH2; CMPD2; LVNC6; RCM3; TnTC; cTnT

Associated disorders

The TNNT2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), restrictive cardiomyopathy (RCM) (MedGen UID: 382807), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

Pathogenic TNNT2 variants are associated with 3% of clinical cases of HCM and 2%-3% of clinical DCM cases and are a rare cause of LVNC.

The TNNT2 gene encodes the protein troponin T, cardiac muscle. Troponin T is part of the sarcomere complex, which is present in both cardiac and skeletal muscle cells. The primary role of the sarcomere complex is muscle contraction. Pathogenic variants in genes that encode sarcomere proteins are a common cause of inherited cardiomyopathies.

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
TNNT2 NM_001001430.2; NM_000364.3