ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1176+2T>A

dbSNP: rs2046947920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212592 SCV001384180 likely pathogenic Birt-Hogg-Dube syndrome 2019-10-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FLCN-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 10 of the FLCN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Mayo Clinic Laboratories, Mayo Clinic RCV003480996 SCV004226898 likely pathogenic not provided 2023-02-08 criteria provided, single submitter clinical testing PM2, PVS1_strong

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