Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235369 | SCV001408051 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2022-06-10 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 961639). This variant has not been reported in the literature in individuals affected with LRRK2-related conditions. This variant is present in population databases (rs528838140, gnomAD 0.006%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2059 of the LRRK2 protein (p.Phe2059Leu). |
Ambry Genetics | RCV003166452 | SCV003855646 | uncertain significance | Inborn genetic diseases | 2022-12-25 | criteria provided, single submitter | clinical testing | The p.F2059L variant (also known as c.6175T>C), located in coding exon 42 of the LRRK2 gene, results from a T to C substitution at nucleotide position 6175. The phenylalanine at codon 2059 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |