Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216980 | SCV000272712 | uncertain significance | not specified | 2015-12-18 | criteria provided, single submitter | clinical testing | The p.Ile17623Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/8504 of East Asian chromosome s and 1/16496 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computational prediction tools and conservatio n analysis do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Ile17623Leu variant is uncertai n. |