ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1489dup (p.Val497fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999054 SCV005623377 pathogenic not provided 2024-03-21 criteria provided, single submitter clinical testing The FLCN c.1489dup (p.Val497Glyfs*24) variant alters the translational reading frame of the FLCN mRNA and causes the premature termination of FLCN protein synthesis. This variant has not been reported in individuals with FLCN-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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