ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) (rs368778627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635567 SCV000756985 pathogenic Multiple fibrofolliculomas 2019-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp260*) 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 to segregate with Birt-Hogg-Dub syndrome in more than one family (PMID: 18579543, 22068306). ClinVar contains an entry for this variant (Variation ID: 161246). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
CSER _CC_NCGL, University of Washington RCV000148502 SCV000190213 pathogenic Pneumothorax, primary spontaneous 2014-06-01 no assertion criteria provided research

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