ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4918G>A (p.Glu1640Lys) (rs748924413)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208194 SCV000264072 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-06-29 criteria provided, single submitter clinical testing
Invitae RCV000816132 SCV000956625 uncertain significance Familial hypertrophic cardiomyopathy 14 2018-07-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1640 of the MYH6 protein (p.Glu1640Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs748924413, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYH6-related disease. ClinVar contains an entry for this variant (Variation ID: 222717). 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"). 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.

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