Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707953 | SCV000837063 | likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-5 of the ACADSB gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with ACADSB-related conditions. This variant disrupts the p.Thr148 amino acid residue in ACADSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15615815, 17945527, 20547083). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |