Total submissions: 2
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. |