ClinVar Miner

Submissions for variant NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys)

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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 RCV003744152 SCV004488841 uncertain significance Severe combined immunodeficiency due to IKK2 deficiency 2022-12-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 54 of the IKBKB protein (p.Asn54Lys). This variant has not been reported in the literature in individuals affected with IKBKB-related conditions. 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.

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