ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)

gnomAD frequency: 0.00002  dbSNP: rs763963623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813515 SCV000953877 uncertain significance Hypertrophic cardiomyopathy 14 2022-11-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 656980). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (rs763963623, gnomAD 0.003%). 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. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 730 of the MYH6 protein (p.Val730Ala).
Ambry Genetics RCV002422808 SCV002725342 likely benign Cardiovascular phenotype 2018-08-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002487777 SCV002790383 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-09-15 criteria provided, single submitter clinical testing

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