Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001945847 | SCV002202306 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2021-05-13 | 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"). This variant has not been reported in the literature in individuals with LRRK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with methionine at codon 1131 of the LRRK2 protein (p.Leu1131Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine. |
| Ambry Genetics | RCV004044343 | SCV005031343 | uncertain significance | Inborn genetic diseases | 2022-11-04 | criteria provided, single submitter | clinical testing | The p.L1131M variant (also known as c.3391C>A), located in coding exon 25 of the LRRK2 gene, results from a C to A substitution at nucleotide position 3391. The leucine at codon 1131 is replaced by methionine, 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. |