Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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). |