ClinVar Miner

Submissions for variant NM_012275.3(IL36RN):c.*276A>G

gnomAD frequency: 0.64674  dbSNP: rs1800930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000317835 SCV000415988 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 RCV003326131 SCV004032440 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 rs1800930 is yet to be ascertained.
Breakthrough Genomics, Breakthrough Genomics RCV004708353 SCV005242541 benign not provided criteria provided, single submitter not provided

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