ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs)

dbSNP: rs1303637368
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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 RCV000801536 SCV000941313 pathogenic Immunodeficiency, common variable, 2 2022-03-18 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: 647108). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser33Aspfs*52) 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).

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