ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter)

gnomAD frequency: 0.00010  dbSNP: rs201021960
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648136 SCV000769950 uncertain significance Immunodeficiency, common variable, 2 2022-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu236*) in the TNFRSF13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acid(s) of the TNFRSF13B protein. This variant is present in population databases (rs201021960, gnomAD 0.3%). This premature translational stop signal has been observed in individual(s) with antibody deficiency and/or common variable immune deficiency (CVID) and pancreatic cancer (PMID: 27123465, 34975878). ClinVar contains an entry for this variant (Variation ID: 538709). Studies have shown that this premature translational stop signal does not significantly alter or has an unclear effect on TNFRSF13B gene expression (PMID: 25205549). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001311876 SCV001502226 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001311876 SCV001986454 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing Identified in the heterozygous state and with a second variant in TNFRSF13B in patients with common variable immune deficiency (Pulvirenti et al., 2016; Rojas-Restrepo et al., 2021); Nonsense variant predicted to result in protein truncation, as the last 58 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD.; This variant is associated with the following publications: (PMID: 26284228, 25205549, 36155879, 31150062, 27123465, 34441032, 34975878)
Fulgent Genetics, Fulgent Genetics RCV002493029 SCV002793174 uncertain significance Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 2022-04-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001311876 SCV003827689 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing

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