Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032426 | SCV003298220 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2022-07-13 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 39152). This variant has not been reported in the literature in individuals affected with LRRK2-related conditions. This variant is present in population databases (rs281865044, gnomAD 0.004%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 871 of the LRRK2 protein (p.Lys871Glu). |
Gene |
RCV000032426 | SCV000056082 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |