Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001775053 | SCV002011830 | likely pathogenic | Maple syrup urine disease | 2019-07-03 | criteria provided, single submitter | clinical testing | This variant creates a premature translational stop signal (p.Leu110Ter) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in the gnomAD database and it has not been reported previously in the ClinVar Database (NCBI National Library of Medicine, NIH, Bethesda MD). Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, this variant has been classified as a "likely pathogenic" finding. |
| Labcorp Genetics |
RCV001775053 | SCV003351386 | pathogenic | Maple syrup urine disease | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu110*) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with maple syrup urine disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 1319976). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV001775053 | SCV004215971 | likely pathogenic | Maple syrup urine disease | 2023-07-24 | criteria provided, single submitter | clinical testing |