Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386118 | SCV001586238 | pathogenic | Birt-Hogg-Dube syndrome | 2022-06-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is also known as nt1795insCCACCCT. This premature translational stop signal has been observed in individuals with Birt-Hogg-Dubé syndrome (PMID: 17496196, 27871249). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val452Profs*6) 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). |
Division of Respiratory Medicine of Juntendo University, |
RCV001386118 | SCV004032355 | pathogenic | Birt-Hogg-Dube syndrome | 2023-07-01 | no assertion criteria provided | clinical testing |