ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.104del (p.Pro35fs) (rs1443151475)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652036 SCV000773897 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro35Leufs*26) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported as homozygous or in combination with another ACADVL variant in individuals affected with very-long-chain acyl-CoA dehydrogenase deficiency (PMID: 9973285, 25834949). Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124, 12893739). 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.