ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.1301C>T (p.Pro434Leu)

gnomAD frequency: 0.00001  dbSNP: rs1024428958
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808755 SCV000948873 uncertain significance Immunodeficiency, common variable, 10 2022-09-06 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 653061). This variant has not been reported in the literature in individuals affected with NFKB2-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 434 of the NFKB2 protein (p.Pro434Leu).

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