ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.3722+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688322 SCV000815928 pathogenic Rubinstein-Taybi syndrome 1 2018-03-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 21 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 to be de novo in an individual affected with Rubinstein-Taybi syndrome (Invitae). A different nucleotide change at the same consensus splice site (c.3836+1G>A, reported as IVS22+1G>A) has been reported in an individual affected with Rubinstein-Taybi syndrome (PMID: 16359492). 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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