Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601983 | SCV000712471 | uncertain significance | not specified | 2016-09-02 | criteria provided, single submitter | clinical testing | The p.Val23880Gly variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Val23880Gly vari ant may impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Val23880 Gly variant is uncertain. |