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 2019-12-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001010529 SCV001170745 pathogenic Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing The p.C415* pathogenic mutation (also known as c.1245C>A), located in coding exon 8 of the FLCN gene, results from a C to A substitution at nucleotide position 1245. This changes the amino acid from a cysteine to a stop codon within coding exon 8. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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