Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003864711 | SCV004671603 | uncertain significance | Immunodeficiency, common variable, 2 | 2023-09-08 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 191 of the TNFRSF13B protein (p.Asp191His). This variant is present in population databases (rs753867822, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TNFRSF13B-related conditions. 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 not expected to disrupt 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. |
| ARUP Laboratories, |
RCV005230595 | SCV005877076 | uncertain significance | not provided | 2024-07-12 | criteria provided, single submitter | clinical testing | The TNFRSF13B c.571G>C; p.Asp191His variant (rs753867822), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 3009600). This variant is found in the non-Finnish European population with an allele frequency of 0.005% (6/128,404 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.374). Due to limited information, the clinical significance of this variant is uncertain at this time. |