ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter) (rs748148728)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657679 SCV000779428 likely pathogenic not provided 2016-05-02 criteria provided, single submitter clinical testing This variant is denoted FLCN c.1245C>A at the cDNA level and p.Cys415Ter (C415X) 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. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Ambry Genetics RCV001010529 SCV001170745 pathogenic Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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