ClinVar Miner

Submissions for variant NM_005419.4(STAT2):c.1209+1del

dbSNP: rs1592475699
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000821148 SCV000961892 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2020-02-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the STAT2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STAT2 are known to be pathogenic (PMID: 23391734, 26122121). Experimental studies have shown that this variant disrupts mRNA splicing (Dr. Maciag, external communication). This variant has been observed in individual(s) with clinical features of STAT2 deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 663294). This variant is not present in population databases (ExAC no frequency).

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.