ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)

gnomAD frequency: 0.00001  dbSNP: rs374507980
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 RCV000508272 SCV000602364 uncertain significance not specified 2016-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274804 SCV002816039 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001274804 SCV002946737 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 518 of the ACADVL protein (p.Gly518Ser). This variant is present in population databases (rs374507980, gnomAD 0.02%). This missense change has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (PMID: 31031081). ClinVar contains an entry for this variant (Variation ID: 439356). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADVL protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV003441900 SCV004170566 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31031081)
Natera, Inc. RCV001274804 SCV001459257 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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.