ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1751G>A (p.Gly584Asp)

dbSNP: rs1595085409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401578 SCV002711651 likely pathogenic Cardiovascular phenotype 2019-01-29 criteria provided, single submitter clinical testing The p.G584D variant (also known as c.1751G>A), located in coding exon 14 of the MYH7 gene, results from a G to A substitution at nucleotide position 1751. The glycine at codon 584 is replaced by aspartic acid, an amino acid with similar properties. Other alterations affecting the same amino acid, p.G584R (c.1750G>C) and p.G584S (c.1750G>A), have been reported in association with hypertrophic cardiomyopathy (HCM) (Solomon SD et al. J. Am. Coll. Cardiol., 1993 Aug;22:498-505; Erdmann J et al. Clin Genet. 2003;64(4):339-49). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
All of Us Research Program, National Institutes of Health RCV004808319 SCV005431134 uncertain significance Cardiomyopathy 2023-04-27 criteria provided, single submitter clinical testing

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