ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1177-2A>G (rs1057520528)

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 RCV000444206 SCV000515896 pathogenic not provided 2016-12-28 criteria provided, single submitter clinical testing The c.1177-2A>G splice site variant in the FLCN gene has been previously reported in at least two siblings with fibrofolliculomas (van Steensel et al., 2007). This variant destroys the canonical splice acceptor site in intron 10, and is expected to cause abnormal gene splicing. Based on currently available evidence, we consider c.1177-2A>G 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.