ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1177-169_1538del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791534 SCV000930788 pathogenic Multiple fibrofolliculomas 2018-07-31 criteria provided, single submitter clinical testing This variant is a sub-genic deletion of the genomic region encompassing exons 11-13 of the FLCN gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product. This variant has not been reported in the literature in individuals with FLCN-related disease. A different truncations (p.Arg527*) that lies downstream of this variant has been determined to be pathogenic (PMID: 15852235, Invitae). This suggests that deletion of C-terminal domain of the FLCN protein is causative of disease. 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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