Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219099 | SCV000272730 | uncertain significance | not specified | 2015-04-04 | criteria provided, single submitter | clinical testing | The p.Arg19752His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/6570 Finnish chromosomes and in 2/11522 Latino chromosomes by the Exome Aggregation Consortium Sequencing Pro ject (http://exac.broadinstitute.org). Computational prediction tools and conser vation analyses do not provide strong support for or against an impact to the pr otein. In summary, the clinical significance of the p.Arg19752His variant is unc ertain. |