ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.649C>T (p.Gln217Ter) (rs1555609899)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519187 SCV000617531 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing The Q217X nonsense variant in the FLCN gene has been reported previously in at least one individual with features consistent with Birt-Hogg-Dube syndrome (Kluger et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q217X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we consider Q217X to be pathogenic.

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.