Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538294 | SCV000640050 | pathogenic | Oculofaciocardiodental syndrome | 2017-01-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in BCOR are known to be pathogenic (PMID: 15004558, 19367324). This sequence change deletes 2 nucleotides from exon 7 of the BCOR mRNA (c.3410_3411delAA), causing a frameshift at codon 1137. This creates a premature translational stop signal (p.Lys1137Serfs*4) and is expected to result in an absent or disrupted protein product. |
Prevention |
RCV003983113 | SCV004796809 | likely pathogenic | BCOR-related condition | 2024-02-21 | criteria provided, single submitter | clinical testing | The BCOR c.3410_3411delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys1137Serfs*4). To our knowledge, this variant has not been reported in the literature. Loss of function variants in BCOR are known to cause oculofaciocardiodental (OFCD) syndrome in females (Hilton et al. 2009. PubMed ID: 19367324). This variant has not been reported in a large population database, indicating this variant is rare. In summary, we interpret this variant as likely pathogenic. |