ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter) (rs561236067)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420603 SCV000513044 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing The Y409X nonsense mutation in the FLCN gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not beenreported previously to our knowledge, its presence is consistent with a diagnosis of Birt-Hogg-Dubesyndrome.

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