Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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 |