ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3914+3G>T

dbSNP: rs587783485
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
Genetic Services Laboratory, University of Chicago RCV000145743 SCV000192869 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-08 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000145743 SCV002568396 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-08-25 criteria provided, single submitter curation The heterozygous c.3914+3G>T variant in CREBBP was identified in 1 individual with clinical features of Rubinstein-Taybi syndrome via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Neurodev Study (https://www.neurodevproject.org/). Trio exome analysis showed this variant to be de novo. The c.3914+3G>T variant in CREBBP has not been previously reported in individuals with Rubinstein-Taybi syndrome and was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal dominant Rubinstein-Taybi syndrome. ACMG/AMP Criteria applied: PS2, PP4, PM2_supporting (Richards 2015).

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.