Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813882 | SCV000954264 | pathogenic | Oculofaciocardiodental syndrome | 2019-01-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BCOR are known to be pathogenic (PMID: 15004558, 19367324). This variant has been observed in an individual affected with oculofaciocardiodental (OFCD) syndrome (PMID: 21740180). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys953Serfs*8) in the BCOR gene. It is expected to result in an absent or disrupted protein product. |