ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1451del (p.Asn484fs)

dbSNP: rs1567807238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698319 SCV000826979 pathogenic Birt-Hogg-Dube syndrome 2018-05-04 criteria provided, single submitter clinical testing Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant has not been reported in the literature in individuals with FLCN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn484Ilefs*7) in the FLCN gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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