ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.192dup (p.Pro65fs)

dbSNP: rs771055189
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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 RCV000690630 SCV002538675 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2024-02-27 reviewed by expert panel curation The NM_000018.4(ACADVL):c.192dup (p.Pro65Thrfs*7) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically relevant exon 3/20 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 (ACADVL VCEP specifications version 1; approved November 9, 2021). This variant was originally curated November 12, 2021 and the recurated classification was approved by the expert panel on February 27, 2024.
Invitae RCV000690630 SCV000818327 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 569888). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro65Thrfs*7) 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).
Baylor Genetics RCV000690630 SCV004211764 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-04-28 criteria provided, single submitter clinical testing

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