ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043027 SCV001206738 uncertain significance Common variable immunodeficiency 2 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 72 of the TNFRSF13B protein (p.Arg72Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs375514495, ExAC 0.02%). This variant has not been reported in the literature in individuals with TNFRSF13B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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