ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.780-1G>T (rs878855218)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487245 SCV000567035 pathogenic not provided 2016-02-11 criteria provided, single submitter clinical testing The c.780-1 G>T splice site variant in the FLCN gene destroys the canonical spliceacceptor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to anabnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormalprotein product if the message is used for protein translation. Although this variant hasnot been previously reported to our knowledge, we interpret it as pathogenic.
Invitae RCV000475965 SCV000549474 likely pathogenic Multiple fibrofolliculomas 2016-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the FLCN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a FLCN-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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