ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1766_1769TGAG[1] (p.Ser590fs) (rs1555529048)

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 RCV000673234 SCV000798414 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000673234 SCV000959497 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-11-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ACADVL gene (p.Ser590Argfs*89). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the ACADVL protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ACADVL variant in an individual affected with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 26927351). ClinVar contains an entry for this variant (Variation ID: 557136). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Arg613 amino acid residue in ACADVL. Other variant(s) that disrupt this residue have been observed in individuals with ACADVL-related disease (PMID: 10077518, 7479827, 19327992, 17999356, 8554073, 17374501), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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.