Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000812582 | SCV000952900 | uncertain significance | Birt-Hogg-Dube syndrome | 2020-11-28 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FLCN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 162 of the FLCN protein (p.Leu162Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |
| Ambry Genetics | RCV003279092 | SCV004004214 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-11 | criteria provided, single submitter | clinical testing | The p.L162V variant (also known as c.484C>G), located in coding exon 3 of the FLCN gene, results from a C to G substitution at nucleotide position 484. The leucine at codon 162 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |