Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219145 | SCV000272704 | uncertain significance | not specified | 2015-04-02 | criteria provided, single submitter | clinical testing | The p.Ile17219Asn variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/11462 Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analysis suggest that the variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Ile17219Asn varian t is uncertain. |