Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000671508 | SCV002576773 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2022-09-20 | reviewed by expert panel | curation | The c.428_467del; p.Gly143AlafsTer61 variant in ACADVL results in a frameshift predicted to cause a premature stop codon in biologically relevant exon 6/20 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 population database v2.1.1 (PM2_Supporting). This variant has also been reported once in a heterozygote patient with Very long chain acyl-coA dehydrogenase deficiency (VLCADD) (PP4, PMID:26385305). The ACADVL Variant Curation Expert Panel VCEP classified the variant as pathogenic based on (PVS1+PM2_supporting, PP4). |
Gene |
RCV000480851 | SCV000572612 | pathogenic | not provided | 2021-02-12 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26385305) |
Wong Mito Lab, |
RCV000671508 | SCV001364959 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.428_467del40 (NP_000009.1:p.Gly143AlafsTer61) [GRCH38: NC_000017.11:g.7221009_7221048del] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3 |
Invitae | RCV000671508 | SCV001579730 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-10-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly143Alafs*61) 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). This variant is present in population databases (rs758144859, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (PMID: 26385305). ClinVar contains an entry for this variant (Variation ID: 422995). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000671508 | SCV004217013 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671508 | SCV000796491 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2017-12-18 | no assertion criteria provided | clinical testing |