ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.346C>T (p.Gln116Ter) (rs398124536)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082636 SCV000114678 pathogenic not provided 2013-08-07 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239717 SCV000298044 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492649 SCV000580755 pathogenic Hereditary cancer-predisposing syndrome 2017-01-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000239717 SCV000756951 pathogenic Multiple fibrofolliculomas 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln116*) 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 in an individual affected with Birt-Hogg-Dub syndrome (PMID: 18234728). ClinVar contains an entry for this variant (Variation ID: 96484). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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