ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) (rs875989859)

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 RCV000211454 SCV000268452 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Counsyl RCV000211454 SCV000792310 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000211454 SCV000933584 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 116 of the ACADM protein (p.Cys116Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ACADM variant in individuals affected with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 9158144, 20567907, 19649258, 29285339). This variant is also known as C91Y in the literature. ClinVar contains an entry for this variant (Variation ID: 226068). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.