Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001943366 | SCV002187353 | pathogenic | Maple syrup urine disease | 2020-11-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BCKDHB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn176*) 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). For these reasons, this variant has been classified as Pathogenic. |