ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.365G>A (p.Arg122Gln)

gnomAD frequency: 0.00002  dbSNP: rs755343222
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 RCV001036058 SCV001199405 uncertain significance Immunodeficiency, common variable, 2 2019-04-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 122 of the TNFRSF13B protein (p.Arg122Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs755343222, ExAC 0.006%). This variant has been observed in an individual affected with common variable immunodeficiency and very early-onset inflammatory bowel disease (PMID: 29531467). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.