ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.296del (p.Asp99fs) (rs398124534)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492350 SCV000580757 pathogenic Hereditary cancer-predisposing syndrome 2018-03-22 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239648 SCV000298042 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082634 SCV000114676 pathogenic not provided 2012-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000082634 SCV000321652 pathogenic not provided 2015-11-03 criteria provided, single submitter clinical testing The c.296delA pathogenic variant in the FLCN gene has been reported previously in association with Birt-Hogg-Dube syndrome (Schmidt et al., 2005; Toro et al., 2008). The deletion causes a frameshift starting with codon Aspartic Acid 99, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Asp99ValfsX31. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
GenomeConnect, ClinGen RCV000239648 SCV000606962 not provided Multiple fibrofolliculomas no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000239648 SCV000940601 pathogenic Multiple fibrofolliculomas 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp99Valfs*31) 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 individuals affected with Birt-Hogg-Dubé syndrome (PMID: 15852235, 18234728). This variant is also known as c.751delA in the literature. ClinVar contains an entry for this variant (Variation ID: 96482). 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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