ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.299C>T (p.Ala100Val)

dbSNP: rs876657882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218742 SCV000272042 uncertain significance not specified 2015-04-08 criteria provided, single submitter clinical testing The p.Ala100Val variant in MYH7 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ala100Val var iant is uncertain.
Invitae RCV001056161 SCV001220584 uncertain significance Hypertrophic cardiomyopathy 2019-01-28 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 228906). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 100 of the MYH7 protein (p.Ala100Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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