ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1179del (p.Met394fs) (rs398124525)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082621 SCV000114663 pathogenic not provided 2013-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000082621 SCV000321662 pathogenic not provided 2015-12-17 criteria provided, single submitter clinical testing The c.1179delC pathogenic variant in the FLCN gene causes a frameshift starting with codon Methionine 394, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 74 of the new reading frame, denoted p.Met394CysfsX74. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Ambry Genetics RCV000492656 SCV000580718 pathogenic Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000691870 SCV000819666 pathogenic Multiple fibrofolliculomas 2019-01-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met394Cysfs*74) 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 disease. ClinVar contains an entry for this variant (Variation ID: 96471). 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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