ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs)

dbSNP: rs1558192723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698968 SCV000827659 pathogenic Immunodeficiency, common variable, 7 2022-09-19 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: 576464). This variant has not been reported in the literature in individuals affected with CR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr554Valfs*4) 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).

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