Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409408 | SCV000486118 | likely pathogenic | Maple syrup urine disease | 2016-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409408 | SCV001578968 | pathogenic | Maple syrup urine disease | 2023-11-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser46*) in the BCKDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHA are known to be pathogenic (PMID: 16786533, 22593002). This variant is present in population databases (rs376456598, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 370729). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000409408 | SCV002033351 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000409408 | SCV004215899 | pathogenic | Maple syrup urine disease | 2023-07-01 | criteria provided, single submitter | clinical testing |