ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)

dbSNP: rs2071258420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200799 SCV001364964 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.746G>A (NP_000009.1:p.Trp249Ter) [GRCH38: NC_000017.11:g.7222075G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3
Invitae RCV001200799 SCV003311731 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-03-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp249*) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 932843). For these reasons, this variant has been classified as Pathogenic.

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