ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)

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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 RCV002765802 SCV003010223 pathogenic Immunodeficiency, common variable, 2 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr102*) in the TNFRSF13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TNFRSF13B are known to be pathogenic (PMID: 16007087, 27123465). This variant is present in population databases (rs774955611, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with common variable immunodeficiency (PMID: 27123465). ClinVar contains an entry for this variant (Variation ID: 1974800). For these reasons, this variant has been classified as Pathogenic.

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