ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2520C>G (p.Pro840=)

gnomAD frequency: 0.00001  dbSNP: rs781016038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798941 SCV000938585 uncertain significance Oculofaciocardiodental syndrome 2022-02-08 criteria provided, single submitter clinical testing This sequence change affects codon 840 of the BCOR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BCOR protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 644939). This variant has not been reported in the literature in individuals affected with BCOR-related conditions. This variant is not present in population databases (gnomAD no frequency).

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