ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter) (rs879255682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239621 SCV000298090 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756170 SCV000883896 pathogenic not provided 2018-02-11 criteria provided, single submitter clinical testing The FLCN c.1532G>A; p.Trp511Ter variant (rs879255682), is not reported in the medical literature but is reported as pathogenic in ClinVar (Variation ID: 253257). A different nucleotide change causing the same protein effect (c.1533G>A; p.Trp511Ter) is reported in an individual with Birt-Hogg-Dube syndrome (Kunogi 2010). The c.1532G>A; p.Trp511Ter variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein. Based on available information, this variant is considered pathogenic. REFERENCES Kunogi M et al. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet. 2010 Apr;47(4):281-7.

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