Total submissions: 3
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, |
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. |