Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673876 | SCV000799129 | likely pathogenic | Maple syrup urine disease | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673876 | SCV001581814 | pathogenic | Maple syrup urine disease | 2020-12-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BCKDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 557703). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His336Glnfs*2) 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). |
Genome- |
RCV000673876 | SCV002033528 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002469253 | SCV002765283 | pathogenic | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31980395) |
Baylor Genetics | RCV000673876 | SCV004215921 | likely pathogenic | Maple syrup urine disease | 2023-02-10 | criteria provided, single submitter | clinical testing |