ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1537A>G (p.Ile513Val)

gnomAD frequency: 0.00001  dbSNP: rs1210123747
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035284 SCV001198608 uncertain significance Immunodeficiency, common variable, 7 2019-04-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 513 of the CR2 protein (p.Ile513Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CR2-related conditions. 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 valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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