ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln)

gnomAD frequency: 0.00001  dbSNP: rs200136227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820871 SCV000961604 uncertain significance Severe combined immunodeficiency due to IKK2 deficiency 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 77 of the IKBKB protein (p.Arg77Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IKBKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 663077). 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 disruptive. 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.
Genetics and Molecular Pathology, SA Pathology RCV000820871 SCV004175591 uncertain significance Severe combined immunodeficiency due to IKK2 deficiency 2022-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986636 SCV005598745 uncertain significance Inborn genetic diseases 2024-11-11 criteria provided, single submitter clinical testing The c.230G>A (p.R77Q) alteration is located in exon 4 (coding exon 3) of the IKBKB gene. This alteration results from a G to A substitution at nucleotide position 230, causing the arginine (R) at amino acid position 77 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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