ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)

dbSNP: rs752677472
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 RCV000169493 SCV000220950 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2014-12-11 criteria provided, single submitter literature only
Invitae RCV000169493 SCV003442073 pathogenic Deficiency of butyryl-CoA dehydrogenase 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln137*) 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). This variant is present in population databases (rs752677472, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 12736383). ClinVar contains an entry for this variant (Variation ID: 189087). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.