ClinVar Miner

Submissions for variant NM_138711.6(PPARG):c.491G>A (p.Arg164Gln)

dbSNP: rs148195788
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
Genetic Services Laboratory, University of Chicago RCV000499572 SCV000596559 likely pathogenic PPARG-related familial partial lipodystrophy 2016-08-08 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000499572 SCV001423110 likely pathogenic PPARG-related familial partial lipodystrophy 2020-01-22 criteria provided, single submitter curation The p.Arg194Gln variant in PPARG has been reported in 2 individuals suspected to have Familial Partial Lipodystrophy (PMID: 27749844), and has also been reported likely pathogenic in ClinVar (Variation ID: 436397). This variant was absent from large population studies. In vitro functional studies provide some evidence that the p.Arg194Gln variant may eliminate protein function (PMID: 27749844). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. One additional variant, causing a different amino acid change at the same position, p.Arg194Trp, has been reported in association with disease in the literature, slightly supporting that a change at this position may not be tolerated (PMID: 17299075; DOI: 10.1530/endoabs.41.GP59). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS3, PM2, PP3, PM5_Supporting (Richards 2015).

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.