ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.21C>G (p.Ser7Arg)

dbSNP: rs780461208
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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 RCV001324721 SCV001515686 uncertain significance Immunodeficiency, common variable, 2 2023-01-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. This variant is present in population databases (rs780461208, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 7 of the TNFRSF13B protein (p.Ser7Arg). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1024524).

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