Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152296 | SCV000201160 | likely pathogenic | Primary dilated cardiomyopathy | 2014-03-12 | criteria provided, single submitter | clinical testing | The Trp16032X variant in TTN has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 16032, which is predicted to lead to a truncated or absent protein. Nonsense and other truncating variants in TTN are strongly associated with DCM and the majority occur in the A-band (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 cl inical significance. |