ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.158G>A (p.Arg53His) (rs754938068)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211492 SCV000268450 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000211492 SCV001584378 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 53 of the ACADM protein (p.Arg53His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs754938068, ExAC 0.02%). This variant has been observed in combination with another ACADM variant in an several individuals affected with MCAD deficiency (PMID: 22630369, 31033143, Invitae). ClinVar contains an entry for this variant (Variation ID: 226066). This variant has been reported to affect ACADM protein function (PMID: 26947917). This variant disrupts the p.Arg53 amino acid residue in ACADM. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8102510, 15832312, 16737882, 20434380, 22796001, 24623196). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.