ClinVar Miner

Submissions for variant NM_198053.2(CD247):c.301C>T (p.Gln101Ter) (rs55729925)

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
Fulgent Genetics,Fulgent Genetics RCV000762860 SCV000893224 likely pathogenic Immunodeficiency due to defect in cd3-zeta 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000482496 SCV000566899 pathogenic not provided 2015-06-23 criteria provided, single submitter clinical testing The Q101X nonsense variant in the CD3Z gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q101X variant was not observed at any significant frequency in approximately 8,600 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Therefore, we consider this variant to be pathogenic.
Invitae RCV000762860 SCV000936004 pathogenic Immunodeficiency due to defect in cd3-zeta 2018-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln101*) in the CD247 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs55729925, ExAC 0.1%). This variant has not been reported in the literature in individuals with CD247-related disease. ClinVar contains an entry for this variant (Variation ID: 419227). Loss-of-function variants in CD247 are known to be pathogenic (PMID: 17170122). For these reasons, this variant has been classified as Pathogenic.

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.