Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217352 | SCV001389188 | pathogenic | Birt-Hogg-Dube syndrome | 2022-02-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 946478). This premature translational stop signal has been observed in individual(s) with fibrofolliculomas (PMID: 27734835). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys78Serfs*52) 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). |