ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.226G>T (p.Gly76Cys)

dbSNP: rs146436713
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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 RCV001984561 SCV002216480 uncertain significance Immunodeficiency, common variable, 2 2024-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 76 of the TNFRSF13B protein (p.Gly76Cys). This variant is present in population databases (rs146436713, gnomAD 0.02%). This missense change has been observed in individual(s) with intracranial aneurysm (PMID: 16618819). ClinVar contains an entry for this variant (Variation ID: 1434171). 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 expected to disrupt TNFRSF13B protein function with a positive predictive value of 80%. 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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