ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2582A>G (p.Tyr861Cys) (rs180177452)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216746 SCV000278950 pathogenic not provided 2019-01-09 criteria provided, single submitter clinical testing The Y861C variant in the NLRP3 gene has been reported previously, as Y859C, in association with cryopyrin-related disorders, including an apparently de novo occurrence (Frenkel et al., 2004; Jeru et al., 2010). The variant is not observed in large population cohorts (Lek et al., 2016). Y861C is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Functional studies have shown that Y861C causes a gain-of-function effect leading to altered inflammatory responses (Jeru et al., 2010; Kubota et al., 2013). We interpret this variant as pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084221 SCV000116355 not provided Familial cold urticaria no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.