ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1451del (p.Asn484fs) (rs1567807238)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698319 SCV000826979 pathogenic Multiple fibrofolliculomas 2018-05-12 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLCN-related disease. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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