Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000692108 | SCV000819916 | pathogenic | Birt-Hogg-Dube syndrome | 2019-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant has not been reported in the literature in individuals with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 571073). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln41*) in the FLCN gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002352139 | SCV002655969 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-03-17 | criteria provided, single submitter | clinical testing | The p.Q41* pathogenic mutation (also known as c.121C>T), located in coding exon 1 of the FLCN gene, results from a C to T substitution at nucleotide position 121. This changes the amino acid from a glutamine to a stop codon within coding exon 1. 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. |