ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1062+2T>C (rs886039370)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521076 SCV000616725 pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing The c.1062+2T>C splice site 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 destroys the canonical splice donor site in intron 9. 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. A different variant at the same splice site (c.1062+2T>G) has been reported in association with Birt-Hogg-Dube syndrome (Schmidt et al., 2005). Based on currently available evidence, we consider c.1062+2T>C to be pathogenic.

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