ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1577_1582dup (p.Arg527_Pro528insArgArg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003501401 SCV004271107 uncertain significance Birt-Hogg-Dube syndrome 2023-06-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1577_1582dup, results in the insertion of 2 amino acid(s) of the FLCN protein (p.Arg527_Pro528insArgArg), but otherwise preserves the integrity of the reading frame.

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