Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811873 | SCV000952163 | uncertain significance | Sterile multifocal osteomyelitis with periostitis and pustulosis | 2018-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 15 of the IL1RN protein (p.Gly15Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IL1RN-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Genome Diagnostics Laboratory, |
RCV002264005 | SCV002543461 | uncertain significance | Autoinflammatory syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing |