ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) (rs398123095)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723572 SCV000109756 uncertain significance not provided 2012-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000077927 SCV000602355 uncertain significance not specified 2016-09-06 criteria provided, single submitter clinical testing
Invitae RCV000706679 SCV000835746 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-07-03 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 317 of the ACADVL protein (p.Val317Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to co-occur with other ACADVL variants in an individual affected with very long-chain acyl CoA dehydrogenase deficiency (PMID: 8845838). This variant is also known as p.V277A in the literature. ClinVar contains an entry for this variant (Variation ID: 92293). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000706679 SCV001365204 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.950T>C (NP_000009.1:p.Val317Ala) [GRCH38: NC_000017.11:g.7222738T>C] 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: PP3

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.