ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter)

dbSNP: rs786202541
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 RCV000165394 SCV000216121 pathogenic Hereditary cancer-predisposing syndrome 2017-02-27 criteria provided, single submitter clinical testing The p.Y405* pathogenic mutation (also known as c.1215C>G), located in coding exon 8 of the FLCN gene, results from a C to G substitution at nucleotide position 1215. This changes the amino acid from a tyrosine to a stop codon within coding exon 8. This pathogenic mutation has been described in individuals with clinical features of Birt-Hogg-Dubé syndrome (Toro JR et al. J. Med. Genet. 2008 Jun;45:321-31; Park HJ et al. PLoS ONE 2017 Feb;12:e0170713). Of note, this alteration is also designated as c.1670C>G in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV001219608 SCV001391556 pathogenic Birt-Hogg-Dube syndrome 2023-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr405*) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 185892). This premature translational stop signal has been observed in individual(s) with clinical diagnosis or suspicion of Birt-Hogg-Dubé syndrome (PMID: 18234728, 28151982). This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV001219608 SCV004188963 pathogenic Birt-Hogg-Dube syndrome 2023-09-21 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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.