ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.283C>G (p.Gln95Glu)

gnomAD frequency: 0.00002  dbSNP: rs549493928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365796 SCV001562078 uncertain significance Immunodeficiency, common variable, 2 2020-07-13 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TNFRSF13B-related conditions. This variant is present in population databases (rs549493928, ExAC 0.006%). This sequence change replaces glutamine with glutamic acid at codon 95 of the TNFRSF13B protein (p.Gln95Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002476669 SCV002774988 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing

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