Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613268 | SCV000712421 | uncertain significance | not specified | 2016-08-04 | criteria provided, single submitter | clinical testing | The p.Ala6356Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/11544 Latino chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs75 7523256). Computational prediction tools and conservation analysis do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the p.Ala6356Ser variant is uncertain. |