ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)

gnomAD frequency: 0.00006  dbSNP: rs141472681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001200878 SCV001371782 uncertain significance Immunodeficiency, common variable, 7 2020-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001200878 SCV002291225 pathogenic Immunodeficiency, common variable, 7 2022-11-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 932909). This variant has not been reported in the literature in individuals affected with CR2-related conditions. This variant is present in population databases (rs141472681, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg220*) in the CR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CR2 are known to be pathogenic (PMID: 26325596, 28499783).
PreventionGenetics, part of Exact Sciences RCV004548053 SCV004117376 likely pathogenic CR2-related disorder 2023-05-23 criteria provided, single submitter clinical testing The CR2 c.658C>T variant is predicted to result in premature protein termination (p.Arg220*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-207642168-C-T). Nonsense variants in CR2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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