ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.1148G>A (p.Gly383Glu)

gnomAD frequency: 0.00001  dbSNP: rs755772831
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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 RCV000692741 SCV000820581 uncertain significance Immunodeficiency 67 2022-03-06 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 expected to disrupt IRAK4 protein function. ClinVar contains an entry for this variant (Variation ID: 571564). This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. This variant is present in population databases (rs755772831, gnomAD 0.005%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 383 of the IRAK4 protein (p.Gly383Glu).

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