ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.446del (p.Gly149fs)

dbSNP: rs727504645
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155908 SCV000205619 likely pathogenic Birt-Hogg-Dube syndrome 2016-04-29 criteria provided, single submitter clinical testing The p.Gly149fs variant in FLCN has been identified by our laboratory in 1 indivi dual with Birt-Hogg-Dube syndrome. It was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amin o acid sequence beginning at position 149 and leads to a premature termination c odon 28 amino acids downstream. This alteration is then predicted to lead to a t runcated or absent protein. Frameshift and other truncating variants in FLCN ha ve been associated with Birt-Hogg-Dube syndrome and recurrent spontaneous pneumo thoraces (Nickerson 2002). In summary, although additional studies are required to fully establish its clinical significance, the p.Gly149fs variant is likely p athogenic.

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.