Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269933 | SCV001450300 | pathogenic | not provided | 2016-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880199 | SCV002243868 | pathogenic | Birt-Hogg-Dube syndrome | 2022-01-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Birt-Hogg-Dubé (BHD) (PMID: 27220747). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Glu434Valfs*21) 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). |