ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.779G>A (p.Gly260Glu)

gnomAD frequency: 0.00006  dbSNP: rs150660451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171923 SCV001334826 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312516 SCV001502972 uncertain significance Immunodeficiency, common variable, 2 2024-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 260 of the TNFRSF13B protein (p.Gly260Glu). This variant is present in population databases (rs150660451, gnomAD 0.008%). 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: 916321). 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.
GeneDx RCV001171923 SCV002584078 uncertain significance not provided 2022-04-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003393861 SCV004118910 uncertain significance TNFRSF13B-related disorder 2023-10-01 criteria provided, single submitter clinical testing The TNFRSF13B c.779G>A variant is predicted to result in the amino acid substitution p.Gly260Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0071% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-16842964-C-T). 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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