Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156504 | SCV000206223 | uncertain significance | not specified | 2014-03-28 | criteria provided, single submitter | clinical testing | The Ala564Val variant in TTN has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that the Ala564Val variant may not impact the protein, though this information is not predictive enough to rule out pathogenic ity. Additional information is needed to fully assess the clinical significance of the Ala564Val variant. |