ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.189del (p.Ala64fs) (rs876660611)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222065 SCV000278180 pathogenic Hereditary cancer-predisposing syndrome 2019-06-17 criteria provided, single submitter clinical testing The c.189delC pathogenic mutation, located in coding exon 1 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 189, causing a translational frameshift with a predicted alternate stop codon (p.A64Qfs*66). 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.
GeneDx RCV000255061 SCV000321648 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing Frameshift 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 et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000537263 SCV000632861 pathogenic Multiple fibrofolliculomas 2020-08-06 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the FLCN mRNA (c.189delC), causing a frameshift at codon 64. This creates a premature translational stop signal (p.Ala64Glnfs*66) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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