ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.708del (p.Asn236fs) (rs886039369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254784 SCV000321656 pathogenic not provided 2021-02-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001389700 SCV001591151 pathogenic Multiple fibrofolliculomas 2020-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn236Lysfs*6) in the FLCN gene. It is expected to result in an absent or disrupted protein product. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 265153). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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