ClinVar Miner

Submissions for variant NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala)

gnomAD frequency: 0.00001  dbSNP: rs144420774
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Total submissions: 2
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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, The Hospital for Sick Children RCV002264413 SCV002543485 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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