ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3836+1G>A

dbSNP: rs200782888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145741 SCV000192865 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-08 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000145741 SCV000999450 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390957 SCV001592864 pathogenic Rubinstein-Taybi syndrome 2020-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This variant has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 25388907, 16359492). In at least one individual the variant was observed to be de novo. This variant is also known as IVS22+1G>A. ClinVar contains an entry for this variant (Variation ID: 158361). This variant is not present in population databases (ExAC no frequency). 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.
GeneDx RCV004589638 SCV005078835 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS22+1 G>A; This variant is associated with the following publications: (PMID: 25525159, 16359492, 32827181)

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