ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.566G>T (p.Arg189Met)

gnomAD frequency: 0.00003  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 RCV000549779 SCV000649859 uncertain significance Immunodeficiency, common variable, 2 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 189 of the TNFRSF13B protein (p.Arg189Met). This variant is present in population databases (rs199777698, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 471369). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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