ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser)

gnomAD frequency: 0.00001  dbSNP: rs777996358
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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 RCV001220016 SCV001391987 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 60 of the IL1RN protein (p.Ala60Ser). This variant is present in population databases (rs777996358, gnomAD 0.007%). 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: 948707). 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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