ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.869A>G (p.Lys290Arg)

dbSNP: rs1941465718
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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 RCV001240027 SCV001412948 uncertain significance Immunodeficiency 67 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 290 of the IRAK4 protein (p.Lys290Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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