Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156899 | SCV000206620 | uncertain significance | not specified | 2014-11-20 | criteria provided, single submitter | clinical testing | The p.Val28270Glu variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies including the Exome Aggregat ion Consortium database (ExAC, http://exac.broadinstitute.org). Computational p rediction tools and conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the p. Val28270Glu variant is uncertain. |