ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2086G>A (p.Ala696Thr)

gnomAD frequency: 0.00001  dbSNP: rs377677859
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Total submissions: 2
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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.

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