ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.997_998del (p.Ser333fs)

dbSNP: rs1555608515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635552 SCV000756968 pathogenic Birt-Hogg-Dube syndrome 2017-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser333Argfs*56) 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 been reported in an individual with symptoms consistent with Birt–Hogg–Dub_x0001_é syndrome (PMID: 24393238). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235).
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine RCV000635552 SCV004032420 pathogenic Birt-Hogg-Dube syndrome 2023-07-01 no assertion criteria provided clinical testing

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