ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.568G>A (p.Gly190Arg)

dbSNP: rs150101848
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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 RCV000702208 SCV000831052 uncertain significance Immunodeficiency, common variable, 2 2022-02-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 190 of the TNFRSF13B protein (p.Gly190Arg). This variant is present in population databases (rs150101848, 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: 579029). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
PreventionGenetics, part of Exact Sciences RCV003420250 SCV004114871 uncertain significance TNFRSF13B-related disorder 2022-11-04 criteria provided, single submitter clinical testing The TNFRSF13B c.568G>A variant is predicted to result in the amino acid substitution p.Gly190Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-16843703-C-T). An alternate missense change at the same amino acid has been reported as a variant of uncertain significance in a patient with selective IgA deficiency (Pulvirenti et al. 2016. PubMed ID: 27123465). 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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