ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.237_240dup (p.Met81fs)

dbSNP: rs1597617148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799523 SCV000939189 pathogenic Birt-Hogg-Dube syndrome 2022-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 645451). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This sequence change creates a premature translational stop signal (p.Met81Glyfs*20) 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).
Ambry Genetics RCV001015314 SCV001176136 pathogenic Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing The c.237_240dupGGAC pathogenic mutation, located in coding exon 1 of the FLCN gene, results from a duplication of GGAC at nucleotide position 237, causing a translational frameshift with a predicted alternate stop codon (p.M81Gfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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