ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)

dbSNP: rs1601618876
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003332285 SCV004039867 pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing Identified in a patient with clinical features of Rubinstein-Taybi syndrome in published literature (Fergelot et al., 2016); Frameshift 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: 27648933, 32827181)
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV001027432 SCV001189989 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 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.