ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg)

gnomAD frequency: 0.00007  dbSNP: rs72553874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989758 SCV001140309 uncertain significance Immunodeficiency, common variable, 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989758 SCV001221233 uncertain significance Immunodeficiency, common variable, 2 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 40 of the TNFRSF13B protein (p.Trp40Arg). This variant is present in population databases (rs72553874, gnomAD 0.02%). This missense change has been observed in individual(s) with antibody deficiency (PMID: 18981294). ClinVar contains an entry for this variant (Variation ID: 803326). 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"). Experimental studies have shown that this missense change does not substantially affect TNFRSF13B function (PMID: 21419480). 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.
GeneDx RCV003151825 SCV003840667 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing Identified in a patient with common variable immune deficiency in published literature (Salzer et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22076597, 26096648, 21419480, 18981294)
Fulgent Genetics, Fulgent Genetics RCV005021291 SCV005643782 uncertain significance Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 2024-06-12 criteria provided, single submitter clinical testing

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