Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152225 | SCV000201013 | uncertain significance | not specified | 2013-09-11 | criteria provided, single submitter | clinical testing | The Ala21210Thr variant in TTN has not been previously reported in any other fam ilies with cardiomyopathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIF T) do not provide strong support for or against an impact to the protein. Additi onal information is needed to fully assess the clinical significance of the Ala2 1210Thr variant. |