ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3779+1G>A

dbSNP: rs587783483
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145739 SCV000192862 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-26 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000145739 SCV000265547 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2014-12-09 criteria provided, single submitter research
GeneDx RCV000255068 SCV000321524 pathogenic not provided 2023-04-26 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27165009, 31515782, 32827181)
Diagnostic Laboratory, Strasbourg University Hospital RCV001260696 SCV001437788 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV000145739 SCV002072617 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-01-27 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV000145739 SCV002760098 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-11-29 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002498664 SCV002813878 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-02-07 criteria provided, single submitter clinical testing
Institute of Immunology and Genetics Kaiserslautern RCV000145739 SCV005043009 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2024-04-25 criteria provided, single submitter clinical testing ACMG Criteria: PM2, PP3, PVS1, PP5; Variant was found in heterozygous state
Labcorp Genetics (formerly Invitae), Labcorp RCV005089678 SCV005838409 pathogenic Rubinstein-Taybi syndrome 2024-04-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 20 of the CREBBP gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 29132461, 32827181). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 158359). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000145739 SCV000999446 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.