Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000420603 | SCV000513044 | pathogenic | not provided | 2016-09-27 | criteria provided, single submitter | clinical testing | The Y409X nonsense mutation in the FLCN gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not beenreported previously to our knowledge, its presence is consistent with a diagnosis of Birt-Hogg-Dubesyndrome. |
Invitae | RCV003607282 | SCV004427098 | pathogenic | Birt-Hogg-Dube syndrome | 2023-01-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 377877). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr409*) 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). |