ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.678A>G (p.Ala226=) (rs2229249)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211540 SCV000268468 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000443722 SCV000511933 benign not specified 2015-07-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000211540 SCV000358940 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000443722 SCV000918375 benign not specified 2017-10-04 criteria provided, single submitter clinical testing Variant summary: The ACADM c.678A>G (p.Ala226Ala) variant involves the alteration of a non-conserved nucleotide causing a synoymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1061/277140 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.029955 (1031/34418, 21 homozygotes). This frequency is about 6 times the estimated maximal expected allele frequency of a pathogenic ACADM variant (0.0054233), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publication. Taken together, this variant is classified as "benign."
Invitae RCV000211540 SCV000630294 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-05-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758717 SCV000887496 likely benign not provided 2018-01-18 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.