ClinVar Miner

Submissions for variant NM_173841.3(IL1RN):c.58A>C (p.Asn20His)

gnomAD frequency: 0.00005  dbSNP: rs369994270
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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 RCV000693420 SCV000821288 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 20 of the IL1RN protein (p.Asn20His). This variant is present in population databases (rs369994270, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. ClinVar contains an entry for this variant (Variation ID: 572109). 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 histidine 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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