ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2599C>T (p.Arg867Cys)

dbSNP: rs149373778
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997000 SCV001152054 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001858851 SCV002198815 uncertain significance Familial cold autoinflammatory syndrome 2 2023-05-21 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 808637). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs149373778, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 867 of the NLRP12 protein (p.Arg867Cys).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264137 SCV002542514 uncertain significance Autoinflammatory syndrome 2021-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259027 SCV003947716 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.2599C>T (p.R867C) alteration is located in exon 7 (coding exon 7) of the NLRP12 gene. This alteration results from a C to T substitution at nucleotide position 2599, causing the arginine (R) at amino acid position 867 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.