ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.418G>A (p.Glu140Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035270 SCV001198593 uncertain significance Common variable immunodeficiency 2 2019-03-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 140 of the TNFRSF13B protein (p.Glu140Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs199578237, ExAC 0.02%). This variant has been observed in individuals affected with common variable immunodeficiency (CVID) (PMID: 19779048, 22884984). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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