ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.2638C>T (p.Pro880Ser)

dbSNP: rs1663776046
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001202228 SCV001373333 uncertain significance Cryopyrin associated periodic syndrome 2019-09-08 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NLRP3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 882 of the NLRP3 protein (p.Pro882Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.
Baylor Genetics RCV001329329 SCV001520735 uncertain significance Familial amyloid nephropathy with urticaria AND deafness 2020-11-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.