ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)

dbSNP: rs2053190428
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research RCV001253817 SCV001429695 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-08-09 criteria provided, single submitter clinical testing The clinical significance was assigned and evaluated based on the ACMG guidelines for Variant Classification (Richards et al, 2015). This variant is absent in population databases (PM2);the patient's phenotype was highly specific for this gene (PP4) and multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3). It is an Autosomal dominant variant and the parents were identified to be negative

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.