ClinVar Miner

Submissions for variant NM_012275.3(IL36RN):c.*401A>T

dbSNP: rs3180234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283822 SCV000415993 benign Generalized pustular psoriasis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003326133 SCV004032442 uncertain significance Acrodermatitis continua suppurativa of Hallopeau criteria provided, single submitter clinical testing Patients with Generalized pustular Psoriasis, with certain mutations, respond very well to IL-1 antagonists like Anakinra, as IL36RN mutations upregulate IL-1. IL36RN gene encodes IL-36 receptor antagonist (IL-36Ra), which is required for subsequent activation of intracellular NF-κB and mitogen-activated protein kinase pathways. However, the role of rs3180234 is yet to be ascertained.

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