ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.99C>G (p.Ser33Arg)

gnomAD frequency: 0.00001  dbSNP: rs573468124
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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 RCV002018397 SCV002299974 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 36 of the IL1RN protein (p.Ser36Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs573468124, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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