ClinVar Miner

Submissions for variant NM_004380.2(CREBBP):c.-204_85del (rs1567386034)

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
Invitae RCV000698529 SCV000827197 pathogenic Rubinstein-Taybi syndrome 1 2018-04-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing first 24 nucleotides of exon 1 of the CREBBP gene (c.-1380_24del), which includes the initiator codon. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CREBBP-related disease. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). 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.