ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly)

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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 RCV003839906 SCV004641111 uncertain significance Severe combined immunodeficiency due to IKK2 deficiency 2023-07-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs372924645, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IKBKB-related conditions. 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. 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. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 391 of the IKBKB protein (p.Asp391Gly).

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