Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156397 | SCV000206115 | uncertain significance | not specified | 2014-03-12 | criteria provided, single submitter | clinical testing | The Pro23453Arg variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Proline (Pro) at position 234 53 is not conserved in evolution and 1 mammal (rat) and several bird species car ry an arginine (Arg) at this position, raising the possibility that this change is tolerated. In summary, additional information is needed to fully assess the c linical significance of the Pro23453Arg variant. |