ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1601del (p.Lys534fs)

dbSNP: rs886039371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255154 SCV000321671 pathogenic not provided 2025-05-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17028174)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361499 SCV005918053 pathogenic Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 2023-03-29 criteria provided, single submitter clinical testing

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