Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152198 | SCV000200952 | likely pathogenic | Primary dilated cardiomyopathy | 2014-06-19 | criteria provided, single submitter | clinical testing | The Tyr26605fs variant in TTN has not been previously reported in individuals wi th cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 26605 and lead to a prematu re termination codon 24 amino acids downstream. This alteration is then predicte d to lead to a truncated or absent protein. Frameshift and other truncating vari ants in TTN are strongly associated with DCM and the majority occur in exons enc oding for the A-band region of the protein (Herman 2012, Pugh 2014), where this variant is located. In summary, this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance. |