ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.468T>G (p.Ser156Arg)

gnomAD frequency: 0.00035  dbSNP: rs148758686
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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 RCV000822441 SCV000963242 uncertain significance Immunodeficiency, common variable, 2 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 156 of the TNFRSF13B protein (p.Ser156Arg). This variant is present in population databases (rs148758686, gnomAD 0.1%). 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: 664357). 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.
Ambry Genetics RCV004029101 SCV004967859 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.468T>G (p.S156R) alteration is located in exon 4 (coding exon 4) of the TNFRSF13B gene. This alteration results from a T to G substitution at nucleotide position 468, causing the serine (S) at amino acid position 156 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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