ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5580_5589del (p.Ser1860fs) (rs1555471323)

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 RCV000552014 SCV000629373 pathogenic Rubinstein-Taybi syndrome 1 2017-05-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CREBBP (p.Ser1898Argfs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 545 amino acids of the CREBBP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a CREBBP-related disease. Two different truncations downstream of this variant (p.Ser2015Alafs*25 and  p.Gln2022Argfs*16) have been determined to be pathogenic (PMID: 17052327). This suggests that deletion of this region of the CREBBP protein is causative of disease. 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.