ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.31C>T (p.Pro11Ser)

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 RCV002637526 SCV003514727 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003404118 SCV004105422 uncertain significance EP300-related disorder 2023-04-28 criteria provided, single submitter clinical testing The EP300 c.31C>T variant is predicted to result in the amino acid substitution p.Pro11Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41489039-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.