ClinVar Miner

Submissions for variant NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala) (rs148388565)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701135 SCV000829919 uncertain significance Common variable immunodeficiency 7 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 404 of the CR2 protein (p.Pro404Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs148388565, ExAC 0.05%). This variant has not been reported in the literature in individuals with CR2-related disease. 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: "Probably Damaging"; 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761693 SCV000891872 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768192 SCV000898634 uncertain significance Systemic lupus erythematosus 9; Common variable immunodeficiency 7 2018-10-24 criteria provided, single submitter clinical testing CR2 NM_001006658.2 exon 6 p.Pro404Ala (c.1210C>G): This variant has not been reported in the literature but is present in 0.6% (82/128630) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-207643432-C-G). This variant is present in ClinVar (Variation ID:578201). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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