ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.1827+1G>A (rs1555483834)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632994 SCV000754204 pathogenic Rubinstein-Taybi syndrome 1 2017-08-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the CREBBP gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individuals affected with Rubinstein–Taybi syndrome and in one individual it was observed to be de novo (PMID: 18792986, 26788536). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). For these reasons, this variant has been classified as Pathogenic.

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