Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523329 | SCV000617990 | pathogenic | not provided | 2016-01-21 | criteria provided, single submitter | clinical testing | The c.275-2 A>G splice site variant in the BCKDHB gene destroys the canonical splice acceptor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.275-2 A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although c.275-2 A>G has not been previously reported in a patient with maple syrup urine disease (MSUD) to our knowledge, we interpret it to be a pathogenic variant. |
Counsyl | RCV000671012 | SCV000795947 | likely pathogenic | Maple syrup urine disease | 2017-11-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000671012 | SCV002033138 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing |