ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1559G>A (p.Arg520His)

gnomAD frequency: 0.00002  dbSNP: rs772909129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069946 SCV001235146 uncertain significance Immunodeficiency, common variable, 7 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 520 of the CR2 protein (p.Arg520His). This variant is present in population databases (rs772909129, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 863069). 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"). 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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