ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.598T>C (p.Trp200Arg)

gnomAD frequency: 0.00011  dbSNP: rs374981936
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Total submissions: 6
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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 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 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001560049 SCV001782383 uncertain significance not provided 2019-02-22 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 a deleterious effect
Ambry Genetics RCV002354342 SCV002658762 uncertain significance Cardiovascular phenotype 2022-11-18 criteria provided, single submitter clinical testing The p.W200R variant (also known as c.598T>C), located in coding exon 6 of the EMD gene, results from a T to C substitution at nucleotide position 598. The tryptophan at codon 200 is replaced by arginine, an amino acid with dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.002% (5/204696) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.005% (5/92220) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000638213 SCV002786072 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831937 SCV002084705 uncertain significance Emery-Dreifuss muscular dystrophy 2020-03-24 no assertion criteria provided clinical testing

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