ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.932_933del (p.Pro311fs) (rs1555608614)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497517 SCV000589589 pathogenic not provided 2021-05-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Observed in individuals with a personal history consistent with pathogenic variants in this gene referred for genetic testing at GeneDx and in published literature (Kumasaka 2014, Hoshika 2016); This variant is associated with the following publications: (PMID: 24393238, 27905298, 28805452)
Invitae RCV000258912 SCV001592870 pathogenic Multiple fibrofolliculomas 2020-03-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro311Argfs*78) 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 observed in individual(s) with clinical features of Birt-Hogg-Dubé syndrome (PMID: 24393238, 28805452). ClinVar contains an entry for this variant (Variation ID: 373895). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics,Gazi University RCV000258912 SCV000320690 pathogenic Multiple fibrofolliculomas no assertion criteria provided research

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