Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003602475 | SCV004453528 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-04-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This variant is present in population databases (rs768471244, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg229Profs*10) 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). |