ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)

gnomAD frequency: 0.00003  dbSNP: rs398123085
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
Eurofins Ntd Llc (ga) RCV000077910 SCV000109739 uncertain significance not provided 2013-05-24 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200766 SCV001365122 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1711G>A (NP_000009.1:p.Gly571Arg) [GRCH38: NC_000017.11:g.7224674G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PM3
GeneDx RCV000077910 SCV001988969 uncertain significance not provided 2021-01-05 criteria provided, single submitter clinical testing Reported in individuals with abnormal newborn screening results suggesting VLCAD deficiency. One individual also had a second pathogenic variant in ACADVL but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Miller et al., 2015; Evans et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26385305, 27246109)
Invitae RCV001200766 SCV002133787 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 571 of the ACADVL protein (p.Gly571Arg). This variant is present in population databases (rs398123085, gnomAD 0.007%). This missense change has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (PMID: 27246109). ClinVar contains an entry for this variant (Variation ID: 92279). 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.
Baylor Genetics RCV001200766 SCV004216991 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-05-26 criteria provided, single submitter 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.