Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611858 | SCV000713507 | uncertain significance | not specified | 2017-08-31 | criteria provided, single submitter | clinical testing | The p.Val21946Phe 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.Val21946Phe varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Val21946P he variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3. |