Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000320045 | SCV000329350 | pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD) |
Invitae | RCV001383231 | SCV001582318 | pathogenic | Birt-Hogg-Dube syndrome | 2021-04-11 | 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: 279810). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met58Aspfs*42) in the FLCN gene. It is expected to result in an absent or disrupted protein product. |