ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.1424C>T (p.Ala475Val)

gnomAD frequency: 0.00001  dbSNP: rs1482556968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002020103 SCV002290561 uncertain significance Immunodeficiency, common variable, 10 2024-07-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 475 of the NFKB2 protein (p.Ala475Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NFKB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1502171). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV004046030 SCV004989301 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.1424C>T (p.A475V) alteration is located in exon 14 (coding exon 13) of the NFKB2 gene. This alteration results from a C to T substitution at nucleotide position 1424, causing the alanine (A) at amino acid position 475 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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