ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.983G>A (p.Gly328Glu) (rs180177456)

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
Invitae RCV001056350 SCV001220791 pathogenic Cryopyrin associated periodic syndrome 2019-04-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 328 of the NLRP3 protein (p.Gly328Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with cryopyrin-associated periodic syndrome (CAPS) in a family (PMID: 30338413), and has been observed in several unrelated individuals affected with clinical features of CAPS (PMID: 15724022, 24773462, Invitae). This variant is also known as G326E in the literature. ClinVar contains an entry for this variant (Variation ID: 97992). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084255 SCV000116391 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.