Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219233 | SCV000272707 | uncertain significance | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | The p.Asp1731Gly variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Asp1731Gly variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Asp1731Gly variant is unc ertain. |