ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter) (rs886042033)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000306506 SCV000330869 pathogenic not provided 2016-10-17 criteria provided, single submitter clinical testing The Q502X nonsense variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. Based on currently available evidence, Q502X is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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