ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.592C>T (p.Arg198Cys) (rs140781824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000298350 SCV000400914 uncertain significance Common Variable Immune Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648138 SCV000769952 uncertain significance Common variable immunodeficiency 2 2018-04-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 198 of the TNFRSF13B protein (p.Arg198Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs140781824, ExAC 0.1%). This variant has not been reported in the literature in individuals with TNFRSF13B-related disease. ClinVar contains an entry for this variant (Variation ID: 322026). 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 tolerated, 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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