ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1347_1353dup (p.Val452fs)

dbSNP: rs2046880504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386118 SCV001586238 pathogenic Birt-Hogg-Dube syndrome 2022-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as nt1795insCCACCCT. This premature translational stop signal has been observed in individuals with Birt-Hogg-Dubé syndrome (PMID: 17496196, 27871249). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val452Profs*6) 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).
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine RCV001386118 SCV004032355 pathogenic Birt-Hogg-Dube syndrome 2023-07-01 no assertion criteria provided clinical testing

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