ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)

dbSNP: rs2067884177
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903735 SCV002173597 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2024-08-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 167 of the EMD protein (p.Tyr167Cys). 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: 1405347). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
Fulgent Genetics, Fulgent Genetics RCV001903735 SCV002782095 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2021-11-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492697 SCV003831906 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2021-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303357 SCV004005723 uncertain significance Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The p.Y167C variant (also known as c.500A>G), located in coding exon 6 of the EMD gene, results from an A to G substitution at nucleotide position 500. The tyrosine at codon 167 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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