ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2881-13G>A

dbSNP: rs751913060
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912665 SCV002170415 pathogenic Rubinstein-Taybi syndrome 2024-02-23 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the CREBBP gene. It does not directly change the encoded amino acid sequence of the CREBBP protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 26788536, 30587507; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1397911). 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.

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.