ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.598T>C (p.Trp200Arg) (rs374981936)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150648 SCV000197988 uncertain significance not specified 2014-07-18 criteria provided, single submitter clinical testing The Trp200Arg variant in EMD has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 2/6728 European American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs374981936). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Trp200Arg variant is uncertain.
Invitae RCV000638213 SCV000759699 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2017-11-17 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 200 of the EMD protein (p.Trp200Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs374981936, ExAC 0.004%). This variant has not been reported in the literature in individuals with EMD-related disease. ClinVar contains an entry for this variant (Variation ID: 163404). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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