ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) (rs879255667)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239633 SCV000298062 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV000239633 SCV000549454 pathogenic Multiple fibrofolliculomas 2016-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 285 (p.Gln285*) of 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. This particular variant has been reported in the literature in an individual affected with Birt-Hogg-Dube syndrome (PMID: 24393238). For these reasons, this variant has been classified as Pathogenic.

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