ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) (rs757090529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795542 SCV000935007 uncertain significance Hypertrophic cardiomyopathy 2018-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1611 of the MYH7 protein (p.Ala1611Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MYH7-related disease. ClinVar contains an entry for this variant (Variation ID: 228913). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220338 SCV000272053 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Ala1611Val variant in MYH7 has not been previously reported in individuals with cardiomyopathy and data from large population studies is insufficient to a ssess the frequency of this variant. Computational prediction tools and conserva tion analysis do not provide strong support for or against an impact to the prot ein. In summary, the clinical significance of the p.Ala1611Val variant is uncert ain.

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