ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.427G>A (p.Gly143Ser)

gnomAD frequency: 0.00003  dbSNP: rs143317628
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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 RCV002031046 SCV002310123 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2022-05-07 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. This variant is present in population databases (rs143317628, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 146 of the IL1RN protein (p.Gly146Ser).

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