Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558409 | SCV000623698 | uncertain significance | Hypertrophic cardiomyopathy | 2017-07-19 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. A computational algorithm designed to assess the pathogenicity of variants in MYH7 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). This variant has been reported in two individuals affected with hypertrophic cardiomyopathy (PMID: 27532257, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 1143 of the MYH7 protein (p.Leu1143Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. |