ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.809del (p.Pro270fs)

dbSNP: rs1567564499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV000693564 SCV004037584 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-26 reviewed by expert panel curation The NM_000018.4(ACADVL):c.809del (p.Pro270GlnfsTer6) variant in ACADVL is a frameshift variant predicted 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). 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: PVS1, PM2_Suporting (ACADVL VCEP specifications version 1; approved November 9, 2021).
Invitae RCV000693564 SCV000821437 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-04-23 criteria provided, single submitter clinical testing 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro270Glnfs*6) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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