Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV001200799 | SCV001364964 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.746G>A (NP_000009.1:p.Trp249Ter) [GRCH38: NC_000017.11:g.7222075G>A] 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 | RCV001200799 | SCV003311731 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-03-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp249*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 932843). For these reasons, this variant has been classified as Pathogenic. |