ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.379C>T (p.Arg127Cys)

gnomAD frequency: 0.00010  dbSNP: rs148520303
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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 RCV001360906 SCV001556862 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 130 of the IL1RN protein (p.Arg130Cys). This variant is present in population databases (rs148520303, gnomAD 0.02%). 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: 1052680). 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. 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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