Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065913 | SCV001230903 | pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2021-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACADSB are known to be pathogenic (PMID: 20547083, 26284228). This variant has not been reported in the literature in individuals with ACADSB-related conditions. This variant is present in population databases (rs755014798, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Val219Glyfs*12) in the ACADSB gene. It is expected to result in an absent or disrupted protein product. |
School of Computer Science, |
RCV001065913 | SCV001573237 | pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2021-05-06 | criteria provided, single submitter | clinical testing | Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This is a frameshift variant in gene ACADSB that disrupts the protein NP_001600.1:p.Val219fs. |
Fulgent Genetics, |
RCV001065913 | SCV002809828 | likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2021-10-06 | criteria provided, single submitter | clinical testing |