ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.298G>A (p.Glu100Lys)

gnomAD frequency: 0.00001  dbSNP: rs764209607
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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 RCV001324731 SCV001515696 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2020-05-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs764209607, ExAC 0.003%). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL1RN-related conditions. This sequence change replaces glutamic acid with lysine at codon 103 of the IL1RN protein (p.Glu103Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.

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