ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter)

dbSNP: rs1440862488
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002552580 SCV001209212 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2019-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420). This variant has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 27648933, 27465822). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1356*) in the EP300 gene. It is expected to result in an absent or disrupted protein product.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002552580 SCV005871440 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PM6_Supporting+PVS1

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.