ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2852A>G (p.Lys951Arg)

gnomAD frequency: 0.00001  dbSNP: rs1230261713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820816 SCV000961545 uncertain significance Hypertrophic cardiomyopathy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 951 of the MYH7 protein (p.Lys951Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Color Diagnostics, LLC DBA Color Health RCV001805900 SCV002052439 uncertain significance Cardiomyopathy 2021-03-15 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 951 of the MYH7 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/251492 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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