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 Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000255061 SCV000321648 pathogenic not provided 2018-03-26 criteria provided, single submitter clinical testing This deletion of one nucleotide in FLCN is denoted c.189delC at the cDNA level and p.Ala64GlnfsX66 (A64QfsX66) at the protein level. The normal sequence, with the base that is deleted in brackets, is GCCC[delC]GCAG. The deletion causes a frameshift which changes an Alanine to a Glutamine at codon 64, and creates a premature stop codon at position 66 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000537263 SCV000632861 pathogenic Multiple fibrofolliculomas 2019-07-10 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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