ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.110A>T (p.Lys37Met) (rs1085307681)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489349 SCV000577026 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing The K37M variant in the EMD gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The XX variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K37M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K37M as a variant of uncertain significance.
Invitae RCV001058405 SCV001222971 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces lysine with methionine at codon 37 of the EMD protein (p.Lys37Met). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 426553). 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: "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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.