ClinVar Miner

Submissions for variant NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp)

gnomAD frequency: 0.00007  dbSNP: rs375207169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048048 SCV001212037 uncertain significance Generalized pustular psoriasis 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 103 of the IL36RN protein (p.Arg103Trp). This variant is present in population databases (rs375207169, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IL36RN-related conditions. ClinVar contains an entry for this variant (Variation ID: 845061). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264160 SCV002543483 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing

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