ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.59del (p.Phe20fs) (rs876658390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213153 SCV000273532 pathogenic Hereditary cancer-predisposing syndrome 2015-01-23 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239668 SCV000298037 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000256007 SCV000321647 pathogenic not provided 2017-05-11 criteria provided, single submitter clinical testing The c.59delT variant in the FLCN gene has been reported previously in association with Birt-Hogg-Dube syndrome (for examples, see Schmidt et al., 2005; Toro et al., 2008; Pierce et al., 2011; Skolnik et al., 2016). The deletion causes a frameshift starting with codon Phenylalanine 20, changes this amino acid to a Serine residue and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Phe20SerfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.59delT to be pathogenic.

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