Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156518 | SCV000206237 | uncertain significance | not specified | 2015-08-07 | criteria provided, single submitter | clinical testing | The p.Leu12816Val variant in TTN has been identified by our laboratory in 2 Cauc asian adults with DCM and was absent from large population studies. Computationa l prediction tools and conservation analysis suggest that this variant may impac t the protein, though this information is not predictive enough to determine pat hogenicity. In summary, the clinical significance of the p.Leu12816Val variant i s uncertain. |