Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000635547 | SCV000756963 | pathogenic | Birt-Hogg-Dube syndrome | 2017-10-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant has been reported in several individuals affected with Birt-Hogg-Dubé syndrome (PMID: 25519458, 28869776). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu440Argfs*28) in the FLCN gene. It is expected to result in an absent or disrupted protein product. |