Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489049 | SCV000576534 | pathogenic | not provided | 2017-04-28 | criteria provided, single submitter | clinical testing | The c.521_527delCCATCAT variant in the FLCN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This deletion causes a frameshift starting with codon Threonine 174, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Thr174ArgfsX47. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.521_527delCCATCAT to be pathogenic. |
Labcorp Genetics |
RCV001064850 | SCV001229777 | pathogenic | Birt-Hogg-Dube syndrome | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr174Argfs*47) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 426160). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). |
Myriad Genetics, |
RCV001064850 | SCV004189040 | pathogenic | Birt-Hogg-Dube syndrome | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Mayo Clinic Laboratories, |
RCV000489049 | SCV004227739 | likely pathogenic | not provided | 2023-05-23 | criteria provided, single submitter | clinical testing | PM2, PVS1 |