ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.201G>C (p.Arg67Ser)

dbSNP: rs886052653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323777 SCV000400920 uncertain significance Common Variable Immune Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521095 SCV003482947 uncertain significance Immunodeficiency, common variable, 2 2024-04-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 67 of the TNFRSF13B protein (p.Arg67Ser). This variant is not present in population databases (gnomAD no frequency). 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: 322028). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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