ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs) (rs1085307771)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489234 SCV000577266 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing The c.1329_1332dupAGCC pathogenic variant in the FLCN gene causes a frameshift starting with codon Alanine 445, changes this amino acid to a Serine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ala445SerfsX12. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1329_1332dupAGCC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Birt-Hogg-Dube syndrome

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