ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.706G>T (p.Glu236Ter) (rs201021960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648136 SCV000769950 uncertain significance Common variable immunodeficiency 2 2018-11-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TNFRSF13B gene (p.Glu236*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acids of the TNFRSF13B protein. This variant is present in population databases (rs201021960, ExAC 0.05%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with common variable immune deficiency (CVID) and pancreatic cancer (PMID: 27123465). 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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