ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter)

dbSNP: rs561236067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420603 SCV000513044 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing The Y409X nonsense mutation in the FLCN gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not beenreported previously to our knowledge, its presence is consistent with a diagnosis of Birt-Hogg-Dubesyndrome.
Invitae RCV003607282 SCV004427098 pathogenic Birt-Hogg-Dube syndrome 2023-01-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 377877). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr409*) 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).

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