ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1352del (p.Pro451fs)

dbSNP: rs1131690828
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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 RCV000492587 SCV000580729 pathogenic Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing The c.1352delC pathogenic mutation, located in coding exon 9 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1352, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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