ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.395A>G (p.Asn132Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002718414 SCV003557323 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.395A>G (p.N132S) alteration is located in exon 3 (coding exon 3) of the TNFRSF13B gene. This alteration results from a A to G substitution at nucleotide position 395, causing the asparagine (N) at amino acid position 132 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003614201 SCV004378378 uncertain significance Immunodeficiency, common variable, 2 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 132 of the TNFRSF13B protein (p.Asn132Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 2234174). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TNFRSF13B protein function with a negative predictive value of 95%. 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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