ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.872del (p.Pro291fs)

dbSNP: rs2508178010
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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 RCV003504629 SCV004310035 uncertain significance Immunodeficiency, common variable, 2 2023-05-28 criteria provided, single submitter clinical testing 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. 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 results in a frameshift in the TNFRSF13B gene (p.Pro291Glnfs*33). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the TNFRSF13B protein and extend the protein by 29 additional amino acid residues.

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