ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3914A>G (p.Lys1305Arg)

dbSNP: rs1595077213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820094 SCV000960788 uncertain significance Hypertrophic cardiomyopathy 2018-11-11 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with MYH7-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 1305 of the MYH7 protein (p.Lys1305Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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