Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040655 | SCV000064346 | uncertain significance | not specified | 2012-11-19 | criteria provided, single submitter | clinical testing | The Val24207Met variant in TTN has been identified in 1/3994 African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid prop erties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong supp ort for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Val24207Met variant. |