ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1300+2T>G

dbSNP: rs1064793766
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
GeneDx RCV000479064 SCV000566978 pathogenic not provided 2015-06-19 criteria provided, single submitter clinical testing The c.1300+2 T>G splice site variant in the FLCN gene destroys the canonical splicedonor site in intron 11. It is predicted to cause abnormal gene splicing, either leading to anabnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormalprotein product if the message is used for protein translation. Although this variant hasnot been previously reported to our knowledge, we consider it to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090932 SCV005765944 likely pathogenic Birt-Hogg-Dube syndrome 2024-09-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the FLCN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Birt–Hogg–Dube ́ syndrome (PMID: 20618353, 37490463). ClinVar contains an entry for this variant (Variation ID: 419280). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.