Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202674 | SCV001373797 | uncertain significance | Birt-Hogg-Dube syndrome | 2022-12-15 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 934313). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLCN protein function. This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is present in population databases (rs752337482, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 347 of the FLCN protein (p.Lys347Arg). |
| Fulgent Genetics, |
RCV002491607 | SCV002778229 | uncertain significance | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2022-02-24 | criteria provided, single submitter | clinical testing |