ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro)

gnomAD frequency: 0.00001  dbSNP: rs2071314177
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001348318 SCV001542618 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-08-20 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1044110). This missense change has been observed in individual(s) with VLCAD deficiency (PMID: 30194637). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 378 of the ACADVL protein (p.Leu378Pro).
GeneDx RCV001568489 SCV001792371 uncertain significance not provided 2020-07-27 criteria provided, single submitter clinical testing Reported in a patient with suspected very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency who had 38% residual enzyme activity in lymphoblasts; a second ACADVL variant was not identified in the patient (Hesse et al., 2018); Not observed 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: 30194637)

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.