ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.421dup (p.Ala141fs)

dbSNP: rs2071185652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV001223162 SCV002538682 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-09-22 reviewed by expert panel curation The NM_000018.4(ACADVL):c.421dup (p.Ala141fs) variant in ACADVL is a frameshift predicted to cause a premature stop codon in biologically relevant exon 6/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1: PMIDs 9973285, 11590124). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). To our knowledge, this variant has not been reported in the literature in any individuals with VLCADD. The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting
Invitae RCV001223162 SCV001395298 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-02-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). This variant has not been reported in the literature in individuals with ACADVL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala141Glyfs*9) in the ACADVL gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV001223162 SCV004210967 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-09 criteria provided, single submitter clinical testing

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