ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.600-18G>A (rs370523609)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211531 SCV000268471 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224275 SCV000280805 pathogenic not provided 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000211531 SCV000678086 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-11-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000211531 SCV000893475 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000211531 SCV000754920 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is present in population databases (rs370523609, ExAC 0.04%). This variant has been reported in combination with a ACADM pathogenic variant in individuals  with mild medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency on biochemical testing (PMID: 20434380, 26223887). However, it is uncertain if this variant can cause clinical symptoms (PMID: 20434380, 26223887). It has also been detected as heterozygous in several individuals with this condition, but the second allele was not reported (PMID: 27308838, 27477829). ClinVar contains an entry for this variant (Variation ID: 226084). Experimental studies have shown that this missense change has a weak effect on mRNA splicing (PMID: 26223887). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.