ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.218C>A (p.Ala73Asp)

dbSNP: rs2136772253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910476 SCV002196101 uncertain significance Hypertrophic cardiomyopathy 10 2022-09-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 73 of the MYL2 protein (p.Ala73Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1419598). 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.
All of Us Research Program, National Institutes of Health RCV004808161 SCV005431215 uncertain significance Hypertrophic cardiomyopathy 2024-03-05 criteria provided, single submitter clinical testing

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