ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1013T>C (p.Val338Ala) (rs397516087)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195997 SCV000254440 uncertain significance Hypertrophic cardiomyopathy 2015-03-25 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 338 of the MYH7 protein (p.Val338Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant has not been published in the literature and is not present in population databases. ClinVar contains an entry for this variant (RCV000035694). 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, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201479 SCV000256155 likely pathogenic Familial hypertrophic cardiomyopathy 1 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035694 SCV000059345 uncertain significance not specified 2008-03-01 no assertion criteria provided clinical testing

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