ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1021del (p.Arg341fs) (rs1060502368)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470306 SCV000549436 pathogenic Multiple fibrofolliculomas 2019-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg341Glyfs*12) 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 been observed in individuals with symptoms of Birt-Hogg-Dube syndrome (PMID: 15852235, Invitae). This variant is also known as c.1473delC in the literature. ClinVar contains an entry for this variant (Variation ID: 409378). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000485342 SCV000565008 pathogenic not provided 2018-10-09 criteria provided, single submitter clinical testing This deletion of one nucleotide in FLCN is denoted c.1021delC at the cDNA level and p.Arg341GlyfsX12 (R341GfsX12) at the protein level. The normal sequence, with the base that is deleted in brackets, is GCCC[delC]GGAA. The deletion causes a frameshift which changes an Arginine to a Glycine at codon 341, and creates a premature stop codon at position 12 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. FLCN c.1021delC, also reported as c.1473delC, has been reported in at least one individual with Birt-Hogg-Dub? syndrome (Schmidt 2005). We consider this variant to be pathogenic.
Ambry Genetics RCV000492409 SCV000580751 pathogenic Hereditary cancer-predisposing syndrome 2017-08-10 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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