ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) (rs876657646)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222633 SCV000271225 likely pathogenic Multiple fibrofolliculomas 2017-02-06 criteria provided, single submitter clinical testing The p.Ser185Pro variant in FLCN has been reported in 1 individual with Birt Hogg Dube syndrome (BHDS), segregated with disease in 2 affected relatives (Mota-Bur gos 2013, LMM unpublished data), and was absent from large population studies. F LCN is the only gene known to be associated with BHDS and a disease causing vari ant is present in ~90% of patients. Other supporting evidence includes a strong evolutionary conservation of the affected amino acid, suggesting that a change w ould not be tolerated. In summary, although additional studies are required to f ully establish its clinical significance, the p.Ser185Pro variant is likely path ogenic.

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