ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.350A>G (p.Glu117Gly)

gnomAD frequency: 0.00001  dbSNP: rs1159836375
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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 RCV001914959 SCV002146082 uncertain significance Immunodeficiency, common variable, 2 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 117 of the TNFRSF13B protein (p.Glu117Gly). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with immunodeficiency (PMID: 19779048, 22922270). ClinVar contains an entry for this variant (Variation ID: 1379879). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TNFRSF13B protein function. 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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