Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218560 | SCV000272830 | uncertain significance | not specified | 2014-12-31 | criteria provided, single submitter | clinical testing | The p.Val321Ile variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Valine (Val) at position 321 is not completely conserved in evolution and 2 mammals (panda, elephant) carry a n isoleucine (Ile) at this position, raising the possibility that this change ma y be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Val321Ile variant is uncertain. |