ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs)

dbSNP: rs1602131405
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Total submissions: 1
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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.

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