ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3198G>C (p.Lys1066Asn)

dbSNP: rs1175693250
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 RCV001232907 SCV001405479 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-07-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 1066 of the CARD11 protein (p.Lys1066Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant has not been reported in the literature in individuals with CARD11-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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.