ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000120450 SCV000084602 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000703029 SCV000831909 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy 2018-09-19 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.

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