ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.446del (p.Gly149fs) (rs727504645)

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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 RCV000155908 SCV000205619 likely pathogenic Multiple fibrofolliculomas 2016-04-29 criteria provided, single submitter clinical testing The p.Gly149fs variant in FLCN has been identified by our laboratory in 1 indivi dual with Birt-Hogg-Dube syndrome. It was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amin o acid sequence beginning at position 149 and leads to a premature termination c odon 28 amino acids downstream. This alteration is then predicted to lead to a t runcated or absent protein. Frameshift and other truncating variants in FLCN ha ve been associated with Birt-Hogg-Dube syndrome and recurrent spontaneous pneumo thoraces (Nickerson 2002). In summary, although additional studies are required to fully establish its clinical significance, the p.Gly149fs variant is likely p athogenic.

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