ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.418G>A (p.Glu140Lys)

gnomAD frequency: 0.00001  dbSNP: rs199578237
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
Invitae RCV001035270 SCV001198593 uncertain significance Immunodeficiency, common variable, 2 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 140 of the TNFRSF13B protein (p.Glu140Lys). This variant is present in population databases (rs199578237, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of TNFRSF13B-related conditions (PMID: 19779048, 22884984, 32185379). ClinVar contains an entry for this variant (Variation ID: 834559). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001035270 SCV001429112 uncertain significance Immunodeficiency, common variable, 2 2017-12-13 criteria provided, single submitter clinical testing

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.