Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040852 | SCV000064543 | uncertain significance | not specified | 2012-08-24 | criteria provided, single submitter | clinical testing | The Gly29861Ser variant in TTN has not been reported in the literature but has b een identified by our laboratory in one individual with neonatal HCM who also ca rried two other variants of uncertain significance. In addition, this variant ha s not been identified in large and broad populations by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemic al amino acid properties, conservation, PolyPhen2, and SIFT) do not provide supp ort for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Gly29861Ser variant. |
Genetic Services Laboratory, |
RCV000040852 | SCV000597634 | uncertain significance | not specified | 2016-12-20 | criteria provided, single submitter | clinical testing |