Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001975297 | SCV002254202 | uncertain significance | Birt-Hogg-Dube syndrome | 2021-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 202 of the FLCN protein (p.Gly202Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV002352664 | SCV002654613 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-11 | criteria provided, single submitter | clinical testing | The p.G202R variant (also known as c.604G>C), located in coding exon 3 of the FLCN gene, results from a G to C substitution at nucleotide position 604. The glycine at codon 202 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |