Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154978 | SCV000204660 | uncertain significance | not specified | 2014-09-25 | criteria provided, single submitter | clinical testing | The Thr6008Ile variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/8192 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbS NP rs375714080). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein, though 1 specie s (frog) carries an isoleucine (Ile) at this position raising the possibility th at this change may be tolerated. In summary, the clinical significance of the Th r6008Ile variant is uncertain. |