ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.246_265del (p.Leu83fs)

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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 RCV005154556 SCV005781135 pathogenic Immunodeficiency, common variable, 2 2024-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu83Cysfs*9) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with common variable immunodeficiency (PMID: 33859323). For these reasons, this variant has been classified as Pathogenic.

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