ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.59del (p.Phe20fs)

dbSNP: rs876658390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213153 SCV000273532 pathogenic Hereditary cancer-predisposing syndrome 2021-01-27 criteria provided, single submitter clinical testing The c.59delT pathogenic mutation, located in coding exon 1 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 59, causing a translational frameshift with a predicted alternate stop codon (p.F20Sfs*35). This mutation (also reported as c.513delT) has been reported families with Birt-Hogg-Dubé syndrome (Schmidt LS, Am. J. Hum. Genet. 2005 Jun; 76(6):1023-33; Skolnik K et al. Respir Res, 2016 Feb;17:22). 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239668 SCV000298037 pathogenic Birt-Hogg-Dube syndrome 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000256007 SCV000321647 pathogenic not provided 2021-11-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek 2016); Also known as c.513delT or c.514delT; This variant is associated with the following publications: (PMID: 21937013, 18234728, 15852235, 19802896, 26928018, 21398229, 22864127, 27780965, 29357828)
Invitae RCV000239668 SCV004298124 pathogenic Birt-Hogg-Dube syndrome 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe20Serfs*35) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Birt-Hogg-Dubé syndrome (PMID: 26928018). ClinVar contains an entry for this variant (Variation ID: 230104). For these reasons, this variant has been classified as Pathogenic.

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