ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) (rs876658409)

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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 RCV000217378 SCV000273576 pathogenic Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing The p.W186* pathogenic mutation (also known as c.557G>A), located in coding exon 3 of the FLCN gene, results from a G to A substitution at nucleotide position 557. This changes the amino acid from a tryptophan to a stop codon within coding exon 3. 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.
Invitae RCV000475095 SCV000549437 pathogenic Multiple fibrofolliculomas 2016-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 186 (p.Trp186*) of the FLCN gene. It 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). ClinVar contains an entry for this variant (Variation ID: 230137). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000489130 SCV000576872 pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing The W186X nonsense variant in the FLCN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider W186X to be pathogenic.

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