ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala)

gnomAD frequency: 0.00003  dbSNP: rs1379133748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814454 SCV000954865 uncertain significance Immunodeficiency, common variable, 10 2023-05-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 657769). 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 0.003%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 25 of the NFKB2 protein (p.Val25Ala).
Ambry Genetics RCV003258988 SCV003986039 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.74T>C (p.V25A) alteration is located in exon 3 (coding exon 2) of the NFKB2 gene. This alteration results from a T to C substitution at nucleotide position 74, causing the valine (V) at amino acid position 25 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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