ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) (rs768884003)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211500 SCV000268436 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000211500 SCV000754915 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-03-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 253 of the ACADM protein (p.Glu253Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs768884003, ExAC 0.009%). This variant has been observed in an individual affected with clinical features of medium-chain acyl-coenzyme A dehydrogenase deficiency determined by new born screening (Invitae). ClinVar contains an entry for this variant (Variation ID: 226054). 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 C55"). 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.
Counsyl RCV000211500 SCV000792904 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-10-04 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.