ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.70G>A (p.Gly24Arg)

dbSNP: rs727504628
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155888 SCV000205599 uncertain significance not specified 2013-07-29 criteria provided, single submitter clinical testing The Gly24Arg variant in EMD has not been reported in individuals with cardiomyop athy. Data from large population studies is insufficient to assess the frequency of this variant. Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully asse ss the clinical significance of the Gly24Arg variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638218 SCV000759704 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2023-07-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 179103). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EMD protein function. This variant has not been reported in the literature in individuals affected with EMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 24 of the EMD protein (p.Gly24Arg).
GeneDx RCV001571701 SCV001796219 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID #179103; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014)

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