ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.688dup (p.Thr230fs)

dbSNP: rs2071255080
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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 RCV001047888 SCV004176826 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-11-28 reviewed by expert panel curation The c.688dup (p.Thr230AsnfsTer23) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 8 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). 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).
Invitae RCV001047888 SCV001211870 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-08-09 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: 844921). 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.Thr230Asnfs*23) 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 RCV001047888 SCV004215202 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-07-15 criteria provided, single submitter clinical testing

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