ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter)

dbSNP: rs863223293
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003522919 SCV004296398 pathogenic MHC class II deficiency 2022-12-26 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with CIITA-related conditions (PMID: 11862382). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 9543). This variant is also known as c.2178G>A. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp688*) in the CIITA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CIITA are known to be pathogenic (PMID: 8402893, 9099848, 26271388).
OMIM RCV004566714 SCV000030372 pathogenic MHC class II deficiency 1 2002-02-01 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.