Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033082 | SCV001196389 | pathogenic | Birt-Hogg-Dube syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 12-13 of the FLCN gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant disrupts a region of the FLCN protein in which other variant(s) (p.Arg527*) have been determined to be pathogenic (PMID: 15852235, 17028174, 18403135). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |