ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.780-2A>G (rs1555609514)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519471 SCV000618088 pathogenic not provided 2016-05-10 criteria provided, single submitter clinical testing The c.780-2A>G splice site variant in the FLCN gene destroys the canonical splice acceptor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this variant has not been previously reported to our knowledge, we consider c.780-2A>G to be pathogenic.

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