Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000818479 | SCV000959094 | uncertain significance | Immunodeficiency, common variable, 10 | 2022-03-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 661127). This variant has not been reported in the literature in individuals affected with NFKB2-related conditions. This variant is present in population databases (rs377677859, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 696 of the NFKB2 protein (p.Ala696Thr). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002535474 | SCV003531807 | uncertain significance | Inborn genetic diseases | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.2086G>A (p.A696T) alteration is located in exon 19 (coding exon 18) of the NFKB2 gene. This alteration results from a G to A substitution at nucleotide position 2086, causing the alanine (A) at amino acid position 696 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |