Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000600311 | SCV000712545 | uncertain significance | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | The p.Asn4282Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/66454 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 767376352). Computational prediction tools and conservation analysis do not prov ide strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Asn4282Ser variant is uncertain. |