Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152200 | SCV000200956 | uncertain significance | not specified | 2014-02-06 | criteria provided, single submitter | clinical testing | The Pro25883Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, and PolyPhen-2) do not p rovide strong support for or against an impact to the protein. In summary, addit ional information is needed to fully assess the clinical significance of this va riant. |