ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1759G>C (p.Asp587His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705771 SCV000834786 likely pathogenic Hypertrophic cardiomyopathy 2018-03-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 587 of the MYH7 protein (p.Asp587His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 23782526, Invitae). 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). Other missense substitutions at this codon (p.Asp587Val, p.Asp587Asn) have been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 7648684, 27532257). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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