Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001390959 | SCV001592867 | pathogenic | Birt-Hogg-Dube syndrome | 2023-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln385*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Birt-Hogg-Dube syndrome (PMID: 25059020, 27220747). ClinVar contains an entry for this variant (Variation ID: 1076910). |
| Ambry Genetics | RCV002350733 | SCV002619706 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-19 | criteria provided, single submitter | clinical testing | The p.Q385* pathogenic mutation (also known as c.1153C>T), located in coding exon 7 of the FLCN gene, results from a C to T substitution at nucleotide position 1153. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This mutation has been reported in individuals with Birt-Hogg-Dubé syndrome (Lin Z et al. Intern. Med. 2014 Dec;53:2825-8; Furuya M et al. Pathol. Int. 2019 Jan;69:1-12). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Division of Respiratory Medicine of Juntendo University, |
RCV001390959 | SCV004032422 | pathogenic | Birt-Hogg-Dube syndrome | 2023-07-01 | no assertion criteria provided | clinical testing |