ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.400G>A (p.Val134Met)

gnomAD frequency: 0.00001  dbSNP: rs201250825
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513465 SCV000609424 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000701008 SCV000829788 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 134 of the EMD protein (p.Val134Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC 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: 444835). 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 methionine 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.
GeneDx RCV000513465 SCV001987602 uncertain significance not provided 2019-07-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity RCV003492086 SCV003833443 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2019-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992295 SCV005575278 likely benign Cardiovascular phenotype 2024-09-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001271614 SCV001452890 uncertain significance Emery-Dreifuss muscular dystrophy 2020-09-16 no assertion criteria provided clinical testing

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