Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002000659 | SCV002267618 | uncertain significance | Immunodeficiency, common variable, 10 | 2022-03-24 | criteria provided, single submitter | clinical testing | 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with NFKB2-related conditions. This variant is present in population databases (rs755916743, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 48 of the NFKB2 protein (p.Gln48Pro). |
Ambry Genetics | RCV004641852 | SCV005143793 | uncertain significance | Inborn genetic diseases | 2024-06-05 | criteria provided, single submitter | clinical testing | The c.143A>C (p.Q48P) alteration is located in exon 4 (coding exon 3) of the NFKB2 gene. This alteration results from a A to C substitution at nucleotide position 143, causing the glutamine (Q) at amino acid position 48 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |