ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)

dbSNP: rs1555607640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572601 SCV000673479 pathogenic Hereditary cancer-predisposing syndrome 2016-05-18 criteria provided, single submitter clinical testing The c.1286_1287dupAC variant, located in coding exon 8 of the FLCN gene, results from a duplication of AC at nucleotide position 1286, 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).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478287 SCV004218923 pathogenic not provided 2023-03-10 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the FLCN mRNA and causes the premature termination of FLCN protein synthesis. The variant has not been reported in individuals with FLCN-related diseases in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Invitae RCV003500565 SCV004304979 pathogenic Birt-Hogg-Dube syndrome 2023-07-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 485615). This sequence change creates a premature translational stop signal (p.Val430Thrfs*39) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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