ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1498del (p.Val500fs) (rs1597578776)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011903 SCV001172285 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-21 criteria provided, single submitter clinical testing The c.1498delG variant, located in coding exon 10 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1498, causing a translational frameshift with a predicted alternate stop codon (p.V500Wfs*13). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a likely pathogenic.

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