ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.259G>A (p.Gly87Arg)

dbSNP: rs2136772130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001822034 SCV002064185 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001885309 SCV002116986 uncertain significance Hypertrophic cardiomyopathy 10 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 87 of the MYL2 protein (p.Gly87Arg). 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. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004040956 SCV005035474 uncertain significance Cardiovascular phenotype 2023-10-09 criteria provided, single submitter clinical testing The p.G87R variant (also known as c.259G>A), located in coding exon 4 of the MYL2 gene, results from a G to A substitution at nucleotide position 259. The glycine at codon 87 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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