ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1301_1302del

dbSNP: rs1567808098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269933 SCV001450300 pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing
Invitae RCV001880199 SCV002243868 pathogenic Birt-Hogg-Dube syndrome 2022-01-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Birt-Hogg-Dubé (BHD) (PMID: 27220747). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Glu434Valfs*21) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235).

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