Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212592 | SCV001384180 | likely pathogenic | Birt-Hogg-Dube syndrome | 2019-10-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with FLCN-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 10 of the FLCN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Mayo Clinic Laboratories, |
RCV003480996 | SCV004226898 | likely pathogenic | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | PM2, PVS1_strong |