Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216346 | SCV000272695 | uncertain significance | not specified | 2015-03-20 | criteria provided, single submitter | clinical testing | The p.Asp16438Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66150 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, the clinical significance of the p.Asp16438Gly var iant is uncertain. |