ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2633T>C (p.Val878Ala) (rs1060501436)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472927 SCV000546200 likely pathogenic Hypertrophic cardiomyopathy 2016-10-26 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 878 of the MYH7 protein (p.Val878Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several unrelated individuals affected with hypertrophic cardiomyopathy (PMID: 20031602, 20624503, 25132132). 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 rare missense that is absent from population databases, is predicted to be deleterious, and has been observed in several individuals affected with hypertrophic cardiomyopathy. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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