Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040273 | SCV000063964 | likely pathogenic | Primary dilated cardiomyopathy | 2013-07-05 | criteria provided, single submitter | clinical testing | The Tyr13023X variant in TTN has been identified by our laboratory in 1 Caucasia n individual with DCM (LMM unpublished data) and was not identified in large pop ulation studies. This nonsense variant leads to a premature termination codon at position 13023, which is predicted to lead to a truncated or absent protein. He terozygous loss of function of the TTN gene is strongly associated with DCM (Her man 2012). In summary, this variant is likely to be pathogenic, though additiona l data is needed to establish this with confidence. |