Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219742 | SCV000272593 | uncertain significance | not specified | 2015-03-19 | criteria provided, single submitter | clinical testing | The p.Val5579Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but it has been identified in 5/16408 South Asian chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.Val5579Gly variant is uncertain. |