ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003480498 SCV004226909 likely pathogenic not provided 2023-06-07 criteria provided, single submitter clinical testing PM2, PVS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003480498 SCV005623363 pathogenic not provided 2024-10-28 criteria provided, single submitter clinical testing The FLCN c.1150_1160del (p.Val384Phefs*2) variant alters the translational reading frame of the FLCN mRNA and causes the premature termination of FLCN protein synthesis. This variant has been reported in the published literature in an individual with Birt-Hogg-Dube (BHD) syndrome (PMID: 35477461 (2022)). 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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