ClinVar Miner

Submissions for variant NM_016123.4(IRAK4):c.354A>G (p.Ile118Met)

dbSNP: rs1940838592
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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 RCV001296168 SCV001485124 uncertain significance Immunodeficiency 67 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 118 of the IRAK4 protein (p.Ile118Met). 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. ClinVar contains an entry for this variant (Variation ID: 1000082). This variant has not been reported in the literature in individuals affected with IRAK4-related conditions. This variant is not present in population databases (gnomAD no frequency).

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