ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) (rs879255678)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507127 SCV000603722 pathogenic not specified 2016-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567617 SCV000673455 pathogenic Hereditary cancer-predisposing syndrome 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239684 SCV000298083 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762980 SCV000893425 pathogenic Multiple fibrofolliculomas; Pneumothorax, primary spontaneous; Chromosome 17, trisomy 17p11 2; Carcinoma of colon; Renal cell carcinoma, nonpapillary 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000256142 SCV000321667 pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing The R477X nonsense variant in the FLCN gene has been reported previously in association with Birt-Hogg-Dube Syndrome (BHD) (Furuya et al., 2015; Schmidt et al., 2005). It has also been reported in a family with pneumothorax and blebs (Graham et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000239684 SCV000632840 pathogenic Multiple fibrofolliculomas 2018-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 477 (p.Arg477*) 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 individuals affected with Birt-Hogg-Dubé syndrome (PMID: 15852235, 19457309, 24393238, 28558743, 20618353). This variant is also known as c.1884C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 253251). For these reasons, this variant has been classified as Pathogenic.

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