ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2726G>A (p.Gly909Glu)

gnomAD frequency: 0.00001  dbSNP: rs963944104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066160 SCV001231161 uncertain significance Immunodeficiency, common variable, 7 2022-02-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 859939). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CR2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 909 of the CR2 protein (p.Gly909Glu).

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