ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) (rs727504236)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University of Leuven RCV000204606 SCV000579521 pathogenic Hypertrophic cardiomyopathy 2017-02-09 criteria provided, single submitter clinical testing ACMG score pathogenic
Invitae RCV000204606 SCV000260655 pathogenic Hypertrophic cardiomyopathy 2018-08-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 479 of the MYH7 protein (p.Asn479Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hypertrophic cardiomyopathy or with clinical features suggested of hypertrophic cardiomyopathy (PMID: 12707239, 12820698, 27532257, 28356264). ClinVar contains an entry for this variant (Variation ID: 177623). 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 is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000204606 SCV000203854 likely pathogenic Hypertrophic cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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