ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)

dbSNP: rs1597528061
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000782 SCV001157837 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-09-04 criteria provided, single submitter clinical testing The ACADVL c.785T>C; p.Phe262Ser variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The phenylalanine at codon 262 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.Phe262Ser variant is uncertain at this time.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001000782 SCV001365048 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.785T>C (NP_000009.1:p.Phe262Ser) [GRCH38: NC_000017.11:g.7222209T>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: PM1, PP3
Invitae RCV001000782 SCV001487465 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2023-07-19 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 811126). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 262 of the ACADVL protein (p.Phe262Ser).

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.