ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4118T>G (p.Phe1373Cys)

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 RCV003235851 SCV003932948 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV003235851 SCV005330439 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing EP300: PP3
PreventionGenetics, part of Exact Sciences RCV004741474 SCV005355482 uncertain significance EP300-related disorder 2024-09-04 no assertion criteria provided clinical testing The EP300 c.4118T>G variant is predicted to result in the amino acid substitution p.Phe1373Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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.