Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000082623 | SCV000329353 | pathogenic | not provided | 2015-08-14 | criteria provided, single submitter | clinical testing | The c.1203dupC variant in the FLCN gene causes a frameshift starting with codon Isoleucine 402, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Ile402HisfsX54. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
| Invitae | RCV000807361 | SCV000947409 | pathogenic | Birt-Hogg-Dube syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 96473). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is present in population databases (rs398124526, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile402Hisfs*54) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). |
| Baylor Genetics | RCV001292861 | SCV001481542 | pathogenic | Familial spontaneous pneumothorax | 2020-01-07 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Baylor Genetics | RCV000807361 | SCV004183420 | pathogenic | Birt-Hogg-Dube syndrome | 2023-11-15 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000082623 | SCV000114665 | pathogenic | not provided | 2013-02-28 | no assertion criteria provided | clinical testing |