ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) (rs754616167)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492609 SCV000580732 pathogenic Hereditary cancer-predisposing syndrome 2019-03-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
GeneDx RCV000578955 SCV000681052 pathogenic not provided 2019-01-17 criteria provided, single submitter clinical testing This variant is denoted FLCN c.33C>A at the cDNA level and p.Cys11Ter (C11X) at the protein level. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGC>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The C11X variant is not observed in large population cohorts (Lek 2016). Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000696880 SCV000825460 pathogenic Multiple fibrofolliculomas 2018-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys11*) 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: 428641). 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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