ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln)

dbSNP: rs758363942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001991725 SCV002277793 uncertain significance Sterile multifocal osteomyelitis with periostitis and pustulosis 2022-08-09 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1496125). This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. This variant is present in population databases (rs758363942, gnomAD 0.005%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 29 of the IL1RN protein (p.Arg29Gln).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264444 SCV002543468 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045486 SCV004887620 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.86G>A (p.R29Q) alteration is located in exon 3 (coding exon 3) of the IL1RN gene. This alteration results from a G to A substitution at nucleotide position 86, causing the arginine (R) at amino acid position 29 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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