ClinVar Miner

Submissions for variant NM_001006658.2(CR2):c.424C>T (p.Arg142Ter) (rs201017642)

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
Invitae RCV000650308 SCV000772149 uncertain significance Common variable immunodeficiency 7 2019-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg142*) in the CR2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201017642, ExAC 0.02%). This variant has been reported in compound heterozygosity with second CR2 variant in an individual with hypogammaglobulinemia (PMID: 26325596). Experimental studies have shown that patient derived cells carrying this variant demonstrate normal B cell receptor mediated signaling with only slight reductions in somatic hypermutation frequency and IgG class switch recombination (PMID: 26325596). The clinical significance of these findings is unclear. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CR2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.