Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV005834484 | SCV006526217 | pathogenic | Hereditary cancer-predisposing syndrome | 2025-06-26 | criteria provided, single submitter | clinical testing | The c.199dupG pathogenic mutation, located in coding exon 1 of the FLCN gene, results from a duplication of G at nucleotide position 199, causing a translational frameshift with a predicted alternate stop codon (p.A67Gfs*33). This variant was reported in individual(s) with features consistent with Birt-Hogg-Dube syndrome (Namba Y et al. PLoS One, 2023 Jul;18:e0289175). 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. |
| Center for Genomic Medicine, |
RCV003322322 | SCV004026723 | pathogenic | not provided | 2025-03-04 | criteria provided, single submitter | clinical testing | |
| Division of Respiratory Medicine of Juntendo University, |
RCV003326170 | SCV004032377 | pathogenic | Birt-Hogg-Dube syndrome | 2023-07-01 | no assertion criteria provided | clinical testing |