ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.6079_6085dup (p.Leu2029fs) (rs1131691988)

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
GeneDx RCV000494099 SCV000583284 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing The c.6193_6199dupAGCGCTC variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6193_6199dupAGCGCTC variant causes a frameshift starting with codon Leucine 2067, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 276 of the new reading frame, denoted p.Leu2067GlnfsX276. This variant is predicted to cause loss of normal protein function through protein truncation as the last 376 amino acids are lost and replaced with 275 incorrect amino acids. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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.