Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000306506 | SCV000330869 | pathogenic | not provided | 2016-10-17 | criteria provided, single submitter | clinical testing | The Q502X nonsense variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. Based on currently available evidence, Q502X is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded. |
Ambry Genetics | RCV003362740 | SCV004053170 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-06-28 | criteria provided, single submitter | clinical testing | The p.Q502* pathogenic mutation (also known as c.1504C>T), located in coding exon 10 of the FLCN gene, results from a C to T substitution at nucleotide position 1504. This changes the amino acid from a glutamine to a stop codon within coding exon 10. This alteration has been reported in individuals with Birt-Hogg-Dube syndrome (Sattler EC et al. PLoS One, 2018 Dec;13:e0209504). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |