ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1285del (p.His429fs) (rs80338682)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492709 SCV000580727 pathogenic Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000003531 SCV000298075 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082625 SCV000114667 pathogenic not provided 2013-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000082625 SCV000321665 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing The c.1285delC variant in the FLCN gene has been previously reported in association with Birt-Hogg-Dube syndrome (for examples, see Khoo et al., 2002; Fontcuberta et al., 2011; Benusiglio et al., 2014; Jensen et al., 2017). This deletion causes a frameshift starting with codon Histidine 429, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 39 of the new reading frame, denoted p.His429ThrfsX39. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.1285delC to be pathogenic.
GeneReviews RCV000003531 SCV000041591 pathologic Multiple fibrofolliculomas 2008-09-09 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000003531 SCV000549477 pathogenic Multiple fibrofolliculomas 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His429Thrfs*39) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80338683, ExAC 0.04%). This variant has been reported in individuals with Birt-Hogg-Dubé syndrome (PMID: 15852235, 20301695, 25519458, 12471204, 25827758). This variant is also known as c.1733delC in the literature. ClinVar contains an entry for this variant (Variation ID: 3364). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003531 SCV000023689 pathogenic Multiple fibrofolliculomas 2009-09-01 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000003531 SCV000255372 pathogenic Multiple fibrofolliculomas 2014-06-10 criteria provided, single submitter clinical testing

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.