ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln)

gnomAD frequency: 0.00040  dbSNP: rs373954247
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001454648 SCV001658384 likely benign Familial cold autoinflammatory syndrome 2 2023-10-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264331 SCV002542500 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001454648 SCV003800328 likely benign Familial cold autoinflammatory syndrome 2 2022-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394060 SCV004119547 uncertain significance NLRP12-related disorder 2023-01-18 criteria provided, single submitter clinical testing The NLRP12 c.2384G>A variant is predicted to result in the amino acid substitution p.Arg795Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.16% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-54308564-C-T), which may be too common to be an undocumented disease causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.