Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156788 | SCV000206509 | uncertain significance | not specified | 2014-09-05 | criteria provided, single submitter | clinical testing | The Glu10471Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that the Glu10471Lys variant may not impact the protein, though this information is not predictive enough to rule out pathog enicity. In summary, the clinical significance of the Glu10471Lys variant is unc ertain. |