ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.927dup (p.Ala310fs) (rs879255669)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239698 SCV000298066 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000266138 SCV000329352 pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing The c.927dupA variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This duplication causes a frameshift starting with codon Alanine 310, changes this amino acid to a Serine residue and creates a premature Stop codon at position 80 of the new reading frame, denoted p.Ala310SerfsX80. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000239698 SCV001203985 pathogenic Multiple fibrofolliculomas 2020-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala310Serfs*80) 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: 253241). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000266138 SCV001449704 pathogenic not provided 2018-01-24 criteria provided, single submitter clinical testing

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