ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.364C>T (p.Arg122Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700564 SCV000829323 uncertain significance Common variable immunodeficiency 2 2018-04-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 122 of the TNFRSF13B protein (p.Arg122Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs201124889, ExAC 0.05%). This variant has been reported in individuals affected with common variable immunodeficiency (CVID) and IgA deficiency, as well as in unaffected individuals (PMID: 17392797). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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