ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)

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
Ambry Genetics RCV003180509 SCV003881829 likely benign Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003638920 SCV004403789 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420604 SCV004114873 uncertain significance EP300-related disorder 2024-08-22 no assertion criteria provided clinical testing The EP300 c.1972C>A variant is predicted to result in the amino acid substitution p.Leu658Ile. This variant has been reported in an individual undergoing whole exome sequencing for myelomeningocele (Table S3, Au et al. 2021. PubMed ID: 33574475). This variant is reported in 0.0056% of alleles in individuals of Latino 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.