ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys) (rs1595086845)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821674 SCV000962443 uncertain significance Hypertrophic cardiomyopathy 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 437 of the MYH7 protein (p.Asn437Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MYH7-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995158 SCV001149191 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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