ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs)

dbSNP: rs1555915763
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Total submissions: 2
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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.
PreventionGenetics, part of Exact Sciences 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.

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