ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.125_135del (p.Leu42fs)

dbSNP: rs1057516733
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
Counsyl RCV000409347 SCV000486135 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2016-04-06 criteria provided, single submitter clinical testing
Invitae RCV000409347 SCV003474843 pathogenic Deficiency of butyryl-CoA dehydrogenase 2022-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu42Profs*17) in the ACADS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADS are known to be pathogenic (PMID: 12736383, 18523805). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370741). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).

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.