ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.566G>A (p.Arg189Lys)

dbSNP: rs199777698
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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 RCV001306872 SCV001496257 uncertain significance Immunodeficiency, common variable, 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 189 of the TNFRSF13B protein (p.Arg189Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with IgA deficiency (PMID: 22884984). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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