ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.571A>G (p.Met191Val)

dbSNP: rs397515752
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Total submissions: 4
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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 RCV000035110 SCV000058750 likely benign not specified 2011-02-03 criteria provided, single submitter clinical testing Met191Val in exon 6 of EMD: Although this variant changes an amino acid, evolu tionary close species (rat, mouse and cow) naturally carry a valine (Val) at thi s position, reducing the likelihood that the change is pathogenic. Furthermore, our laboratory has detected this variant in a male who reportedly has a son with DCM. Because the EMD gene is located on the X-chromosome, the Met191Val varian t was not passed on to his son whose DCM is therefore likely caused by another g ene variant. In summary, this variant is more likely benign although we cannot exclude a modifying role.
GeneDx RCV001703449 SCV000526841 likely benign not provided 2020-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852704 SCV002126535 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 191 of the EMD protein (p.Met191Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 42277). 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003492339 SCV003833444 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2019-11-08 criteria provided, single submitter clinical testing

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