Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652037 | SCV000773899 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-05-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 541719). 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 variant, c.826_849del, results in the deletion of 8 amino acid(s) of the ACADVL protein (p.Lys276_Val283del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ACADVL protein in which other variant(s) (p.Glu277del) have been determined to be pathogenic (PMID: 23169530, 23430948, 27209629, 30194637). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. |