Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040641 | SCV000064332 | uncertain significance | not specified | 2012-08-27 | criteria provided, single submitter | clinical testing | The Ala23808Glu variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to ful ly assess the clinical significance of this variant. |