ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.844dup (p.Gln282fs)

dbSNP: rs730881119
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159334 SCV000209280 pathogenic Cardiomyopathy 2013-09-11 criteria provided, single submitter clinical testing This variant is denoted c.814dupC p.Gln272ProfsX11 (Q272PfsX11) in exon 15 of the TNNT2 gene (NM_001001430.1). The normal sequence with the base that is duplicated in braces is: TAAC{C}AGAA. Although the c.814dupC mutation in the TNNT2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Glutamine 272, changing it to a Proline, and creating a premature stop codon at position 11 of the new reading frame, denoted p.Gln272ProfsX11. This mutation is expected to result in an abnormal, truncated protein product. While most of the disease-causing mutations in the TNNT2 gene are missense changes, nonsense (Trp287Stop) and splice site (c.821+1G>A) mutations located at the last and penultimate exons have been reported in individuals with diagnosed with familial cardiomyopathy. The variant is found in TNNT2 panel(s).

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