Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816249 | SCV000956748 | pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2023-09-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ACADSB-related conditions. This sequence change creates a premature translational stop signal (p.Glu126Argfs*7) in the ACADSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADSB are known to be pathogenic (PMID: 20547083, 26284228). This variant is present in population databases (rs756587384, gnomAD 0.1%). ClinVar contains an entry for this variant (Variation ID: 659271). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000816249 | SCV002021261 | likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252248 | SCV002522867 | likely pathogenic | See cases | 2021-10-14 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PM2 |