Submissions for variant NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile)

gnomAD frequency: 0.00007  dbSNP: rs372880215

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000635394	SCV000756805	uncertain significance	Generalized pustular psoriasis	2023-12-11	criteria provided, single submitter	clinical testing	This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 77 of the IL36RN protein (p.Thr77Ile). This variant is present in population databases (rs372880215, gnomAD 0.01%). This missense change has been observed in individual(s) with psoriasis (PMID: 23792462). ClinVar contains an entry for this variant (Variation ID: 529885). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
CeGaT Center for Human Genetics Tuebingen	RCV001200639	SCV001371648	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	IL36RN: PM2, BP4
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263868	SCV002543475	uncertain significance	Autoinflammatory syndrome	2020-06-01	criteria provided, single submitter	clinical testing