ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.2641A>G (p.Ser881Gly) (rs140097633)

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 RCV000703029 SCV000831909 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 881 of the CARD11 protein (p.Ser881Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs140097633, ExAC 0.2%). This variant has not been reported in the literature in individuals with CARD11-related disease. ClinVar contains an entry for this variant (Variation ID: 133799). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
ITMI RCV000120450 SCV000084602 not provided not specified 2013-09-19 no assertion provided reference population

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.