Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001895901 | SCV002151760 | uncertain significance | Generalized pustular psoriasis | 2021-10-12 | 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 disruptive. This variant has not been reported in the literature in individuals affected with IL36RN-related conditions. This variant is present in population databases (rs144420774, ExAC 0.003%). This sequence change replaces glycine with alanine at codon 106 of the IL36RN protein (p.Gly106Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. |
Genome Diagnostics Laboratory, |
RCV002264413 | SCV002543485 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing |