ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.317G>A (p.Gly106Glu)

dbSNP: rs1312994862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903353 SCV002162296 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 106 of the EMD protein (p.Gly106Glu). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Ambry Genetics RCV002324289 SCV002609293 uncertain significance Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing The p.G106E variant (also known as c.317G>A), located in coding exon 4 of the EMD gene, results from a G to A substitution at nucleotide position 317. The glycine at codon 106 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well 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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