Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040035 | SCV000063726 | uncertain significance | not specified | 2014-07-23 | criteria provided, single submitter | clinical testing | The Tyr7325Cys variant in TTN has been identified by our laboratory in 1 Black i ndividual with LVNC and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the T yr7325Cys variant is uncertain. |