ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.987del (p.Ser330fs) (rs878855221)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226049 SCV000291458 pathogenic Multiple fibrofolliculomas 2015-11-02 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 9 of the FLCN mRNA (c.987delC), causing a frameshift at codon 330. This creates a premature translational stop signal (p.Ser330Profs*23) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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