ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.632_633del (p.Val211fs)

dbSNP: rs1489679976
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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 RCV001203253 SCV002576764 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-06-04 reviewed by expert panel curation The c.632_633del (p.Val211GlyfsTer41)variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 9/20 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 patients with ACADVL related disease or in functional studies. The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting. In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PMS2_Supporting, PVS1. (Required: VCEP specifications version 2.0; 1/14/22.)
Invitae RCV001203253 SCV001374409 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-04-25 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: 934787). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Val211Glyfs*41) 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).
Revvity Omics, Revvity RCV001203253 SCV003834539 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-03-14 criteria provided, single submitter clinical testing

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