ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2712C>G (p.Gly904=)

dbSNP: rs2548414988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003594577 SCV004335889 uncertain significance Rubinstein-Taybi syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change affects codon 904 of the CREBBP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CREBBP protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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