Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155762 | SCV000205473 | likely pathogenic | Primary dilated cardiomyopathy | 2014-01-28 | criteria provided, single submitter | clinical testing | The 38191+1G>A variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. This variant occurs in the invariant regi on (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Splice and other truncating v ariants in TTN are strongly associated with DCM and the majority occur in the A- band (Herman 2012, LMM unpublished data), while this variant occurs in the I-ban d. In summary, this variant is likely pathogenic, though additional studies are required to fully establish its clinical significance. |