ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) (rs606231273)

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 RCV000333880 SCV000329813 pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing The R626X pathogenic variant in the SETBP1 gene has been reported previously in an individual with intellectual disability (Coe et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R626X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R626X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763028 SCV000893495 pathogenic Schinzel-Giedion syndrome; Mental retardation, autosomal dominant 29 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000144905 SCV000191907 pathogenic Mental retardation, autosomal dominant 29 2014-10-01 no assertion criteria provided literature only

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.