Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791881 | SCV000931148 | pathogenic | Oculofaciocardiodental syndrome | 2018-12-25 | criteria provided, single submitter | clinical testing | Loss-of-function variants in BCOR are known to be pathogenic (PMID: 15004558, 19367324). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BCOR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1082Leufs*2) in the BCOR gene. It is expected to result in an absent or disrupted protein product. |