ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)

dbSNP: rs1057520652
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431043 SCV000516762 pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing Reported in two patients in published literature, one of whom met diagnostic criteria for Rubinstein-Taybi syndrome and the other of whom had multiple congenital anomalies and dysmorphic features, but detailed clinical information and familial segregation information were not provided (PMID: 18792986, 35616356); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 35616356, 18792986)
Labcorp Genetics (formerly Invitae), Labcorp RCV001851047 SCV002238401 pathogenic Rubinstein-Taybi syndrome 2024-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg768*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. 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). This premature translational stop signal has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 18792986). ClinVar contains an entry for this variant (Variation ID: 379578). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005238988 SCV005882892 pathogenic Congenital heart anomalies 2024-08-22 criteria provided, single submitter clinical testing PVS1, PS2, PS4_Moderate, PM2

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.