Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035607 | SCV000059258 | uncertain significance | not specified | 2013-10-10 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The Arg1226Leu variant in MYBPC3 has now been identified in 1 African American individual with DCM, segregated in 2 relatives with cardiomyopathy, and was not identified in la rge population studies. Computational analyses (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg1226Leu var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. Although this data supports that the Arg1226Leu varian t may be pathogenic, additional studies are needed to fully assess its clinical significance. |