Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635552 | SCV000756968 | pathogenic | Birt-Hogg-Dube syndrome | 2017-12-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser333Argfs*56) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with symptoms consistent with Birt–Hogg–Dub_x0001_é syndrome (PMID: 24393238). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). |
Division of Respiratory Medicine of Juntendo University, |
RCV000635552 | SCV004032420 | pathogenic | Birt-Hogg-Dube syndrome | 2023-07-01 | no assertion criteria provided | clinical testing |