ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.932_933del (p.Pro311fs) (rs1555608614)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497517 SCV000589589 pathogenic not provided 2017-06-22 criteria provided, single submitter clinical testing The c.932_933delCT variant in the FLCN gene has been reported previously in at least one individual with pneumothoraces, skin lesions, and lung cysts (Kumasaka et al., 2014; Hoshika et al., 2016). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This deletion causes a frameshift starting with codon Proline 311, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 78 of the new reading frame, denoted p.Pro311ArgfsX78. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.932_933delCT to be pathogenic.
Department of Medical Genetics,Gazi University RCV000258912 SCV000320690 pathogenic Multiple fibrofolliculomas no assertion criteria provided research

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