ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.387+1G>A (rs1057516983)

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
Counsyl RCV000410662 SCV000487152 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-10-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985277 SCV001133286 pathogenic not provided 2019-06-21 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. The gain of a new splice site is predicted. Nucleotide conservation is uninformative. Occurs in multiple cases with a recessive pathogenic variant in the same gene.
Integrated Genetics/Laboratory Corporation of America RCV000410662 SCV001372310 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-06-18 criteria provided, single submitter clinical testing Variant summary: ACADM c.387+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251394 control chromosomes. c.387+1G>A has been reported in the literature in newborns affected with Medium Chain Acyl-CoA Dehydrogenase Deficiency (example, Andersen_2001, Arnold_2010, Yusupov_2010, Gramer_2015). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was 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.