ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.502C>T (p.Arg168Cys)

gnomAD frequency: 0.00003  dbSNP: rs886044839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403886 SCV000338020 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000638223 SCV000759709 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2024-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 168 of the EMD protein (p.Arg168Cys). This variant is present in population databases (no rsID available, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. 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: 285132). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt EMD protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002347999 SCV002646300 uncertain significance Cardiovascular phenotype 2023-10-03 criteria provided, single submitter clinical testing The p.R168C variant (also known as c.502C>T), located in coding exon 6 of the EMD gene, results from a C to T substitution at nucleotide position 502. The arginine at codon 168 is replaced by cysteine, an amino acid with highly dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.003% (5/182849) total alleles studied, with 1 homozygote(s) and no hemizygote(s) observed. The highest observed frequency was 0.02% (4/19080) of South Asian alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833342 SCV002084695 uncertain significance Emery-Dreifuss muscular dystrophy 2020-01-24 no assertion criteria provided clinical testing

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