ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs)

gnomAD frequency: 0.00001  dbSNP: rs2087501902
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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 RCV001935071 SCV002169977 pathogenic Immunodeficiency, common variable, 2 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr166Serfs*55) in the TNFRSF13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 128 amino acid(s) of the TNFRSF13B protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1401351). This variant disrupts a region of the TNFRSF13B protein in which other variant(s) (p.Ser194*) have been determined to be pathogenic (PMID: 23237420). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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