ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu) (rs370328209)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468219 SCV000546265 uncertain significance Hypertrophic cardiomyopathy 2016-09-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 1662 of the MYH7 protein (p.Arg1662Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYH7-related disease. 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). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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