ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.250-1G>A (rs786202081)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164717 SCV000215388 pathogenic Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239714 SCV000298041 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000490144 SCV000576551 pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing The c.250-1G>A variant in the FLCN gene has previously been reported in at least one family with Birt-Hogg-Dube syndrome (Schmidt et al., 2005). This variant destroys the canonical splice acceptor site in intron 4, and is expected to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.250-1G>A is unknown. Based on the currently available evidence, we consider c.250-1G>A 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.