Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001203795 | SCV001374972 | pathogenic | Maple syrup urine disease | 2023-06-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 935244). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. This sequence change creates a premature translational stop signal (p.Lys166*) 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). |
| Myriad Genetics, |
RCV001203795 | SCV001441655 | likely pathogenic | Maple syrup urine disease | 2020-01-24 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001203795 | SCV002011831 | likely pathogenic | Maple syrup urine disease | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant creates a premature translational stop signal referred as p.Lys166Ter (K166*) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in the gnomAD exomes database. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, we consider this finding as a "likely pathogenic variant" related to Maple Syrup Urine Disease. |
| Genome- |
RCV001203795 | SCV002033147 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001203795 | SCV004041560 | pathogenic | Maple syrup urine disease | 2023-08-02 | criteria provided, single submitter | clinical testing |