Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000289249 | SCV000331644 | pathogenic | not provided | 2015-12-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001172542 | SCV003808405 | pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001172542 | SCV003836412 | likely pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2022-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001172542 | SCV004295738 | pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2023-09-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln99*) 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 (rs760791287, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ACADSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 281177). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV001172542 | SCV001335592 | pathogenic | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2020-06-10 | no assertion criteria provided | literature only |