ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.704_705del (p.Pro235fs)

gnomAD frequency: 0.00004  dbSNP: rs749017984
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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 RCV001297013 SCV001485994 uncertain significance Immunodeficiency, common variable, 2 2024-12-16 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the TNFRSF13B gene (p.Pro235Argfs*169). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 59 amino acid(s) of the TNFRSF13B protein and extend the protein by 109 additional amino acid residues. This variant is present in population databases (rs749017984, gnomAD 0.1%). This frameshift has been observed in individual(s) with TNFRSF13B-related conditions (PMID: 33425813). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1000824). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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