Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001897169 | SCV002149315 | pathogenic | Birt-Hogg-Dube syndrome | 2021-08-03 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with FLCN-related conditions. This sequence change creates a premature translational stop signal (p.Gln324*) 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 (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002370435 | SCV002690606 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | The p.Q324* pathogenic mutation (also known as c.970C>T), located in coding exon 6 of the FLCN gene, results from a C to T substitution at nucleotide position 970. This changes the amino acid from a glutamine to a stop codon within coding exon 6. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Fulgent Genetics, |
RCV005016733 | SCV005643824 | likely pathogenic | Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 | 2024-06-03 | criteria provided, single submitter | clinical testing |