ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1615A>C (p.Met539Leu) (rs730880930)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205072 SCV000259931 likely pathogenic Hypertrophic cardiomyopathy 2015-08-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 539 of the MYH7 protein (p.Met539Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases and has been reported in four individuals with hypertrophic cardiomyopathy (PMID: 19659763). 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). In summary, this missense change is absent from controls, has been observed in several unrelated individuals with hypertrophic cardiomyopathy, and is predicted to be deleterious by a well characterized algorithm. In the absence of confirmed segregation or functional data, at this time this variant has been classified as Likely Pathogenic.

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