ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1326del (p.His442fs)

dbSNP: rs1597580340
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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 RCV000814030 SCV000954420 pathogenic Birt-Hogg-Dube syndrome 2018-12-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLCN-related disease. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His442Glnfs*26) in the FLCN gene. It is expected to result in an absent or disrupted protein product.

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