ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.8053G>A (p.Glu2685Lys) (rs748937055)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620588 SCV000736309 uncertain significance Cardiovascular phenotype 2016-09-14 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000701669 SCV000830481 uncertain significance Duchenne muscular dystrophy 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2685 of the DMD protein (p.Glu2685Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DMD-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002643 SCV001160628 uncertain significance not specified 2019-06-14 criteria provided, single submitter clinical testing The DMD c.8053G>A; p.Glu2685Lys variant (rs748937055), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 518815). This variant is found on only three chromosomes (3/178205 alleles, including one hemizygote) in the Genome Aggregation Database. The glutamate at codon 2685 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Glu2685Lys variant is uncertain at this time.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256881 SCV001433377 uncertain significance Conduction disorder of the heart 2019-10-22 criteria provided, single submitter clinical testing

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.