Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032412 | SCV002161417 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2022-01-26 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Parkinson disease (PMID: 17222106, 21885347). 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. Experimental studies have shown that this missense change does not substantially affect LRRK2 function (PMID: 20642453, 27832104). 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: 39138). This variant is present in population databases (rs79996249, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 544 of the LRRK2 protein (p.Lys544Glu). |
Gene |
RCV000032412 | SCV000056068 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |