ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.178C>T (p.Arg60Cys)

gnomAD frequency: 0.00001  dbSNP: rs777555444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822832 SCV000963649 uncertain significance Immunodeficiency, common variable, 2 2025-02-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 60 of the TNFRSF13B protein (p.Arg60Cys). This variant is present in population databases (rs777555444, gnomAD 0.02%). 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: 664687). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693396 SCV005192753 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004749473 SCV005366783 uncertain significance TNFRSF13B-related disorder 2024-09-23 no assertion criteria provided clinical testing The TNFRSF13B c.178C>T variant is predicted to result in the amino acid substitution p.Arg60Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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