Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490444 | SCV000267225 | likely pathogenic | Maple syrup urine disease | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV000490444 | SCV001585234 | pathogenic | Maple syrup urine disease | 2020-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). This variant has not been reported in the literature in individuals with BCKDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 225303). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro123Hisfs*107) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV000490444 | SCV002033143 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing |