Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756171 | SCV000883897 | pathogenic | not specified | 2018-08-20 | criteria provided, single submitter | clinical testing | The FLCN c.1188delC; p.Val397fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. |
Invitae | RCV001048163 | SCV001212153 | pathogenic | Birt-Hogg-Dube syndrome | 2019-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val397Trpfs*71) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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. |
Ambry Genetics | RCV002334419 | SCV002644453 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-21 | criteria provided, single submitter | clinical testing | The c.1188delC pathogenic mutation, located in coding exon 8 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1188, causing a translational frameshift with a predicted alternate stop codon (p.V397Wfs*71). 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. |