ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.314G>A (p.Arg105Gln)

dbSNP: rs1446214032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002032159 SCV002313356 uncertain significance Severe combined immunodeficiency due to IKK2 deficiency 2021-06-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IKBKB protein function. This variant has not been reported in the literature in individuals with IKBKB-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 105 of the IKBKB protein (p.Arg105Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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