ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.561G>C (p.Lys187Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003614431 SCV004390699 uncertain significance Immunodeficiency, common variable, 2 2023-04-07 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 187 of the TNFRSF13B protein (p.Lys187Asn). 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. 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. This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%).

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