ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.752C>T (p.Pro251Leu)

gnomAD frequency: 0.00001  dbSNP: rs769307763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335518 SCV001528683 uncertain significance Immunodeficiency, common variable, 7 2018-11-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001335518 SCV002239269 uncertain significance Immunodeficiency, common variable, 7 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 251 of the CR2 protein (p.Pro251Leu). This variant is present in population databases (rs769307763, gnomAD 0.009%). 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: 1033184). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome-Nilou Lab RCV001335518 SCV004180411 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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