ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.874_886del (p.Leu292fs)

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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 RCV004999057 SCV005623396 pathogenic not provided 2024-11-07 criteria provided, single submitter clinical testing The FLCN c.874_886del (p.Leu292Glnfs*27) 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 the published literature. However, it has been detected in an individual with FLCN-related condition (Quest Diagnostics internal data). 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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