ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.563del (p.Phe188fs)

dbSNP: rs1597606551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816840 SCV000957366 pathogenic Birt-Hogg-Dube syndrome 2018-12-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe188Serfs*35) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in a family with clinical features of Birt-Hogg-Dubé (BHD) syndrome (PMID: 26342594). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002292585 SCV002585625 pathogenic not provided 2022-08-01 criteria provided, single submitter clinical testing FLCN: PVS1, PM2

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