ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.91G>A (p.Gly31Arg)

dbSNP: rs2137901159
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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 RCV001883771 SCV002147240 uncertain significance Immunodeficiency 67 2021-09-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. This sequence change replaces glycine with arginine at codon 31 of the IRAK4 protein (p.Gly31Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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