Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032435 | SCV003441070 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2023-04-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1067 of the LRRK2 protein (p.Arg1067Gln). 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 are conflicting or provide insufficient evidence to determine the effect of this variant on LRRK2 function (PMID: 20642453, 22004453). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRRK2 protein function. ClinVar contains an entry for this variant (Variation ID: 39161). This missense change has been observed in individual(s) with Parkinson disease (PMID: 16247070, 19343804, 29248340, 30502028, 30598256, 32794657). This variant is present in population databases (rs111341148, gnomAD 0.02%). |
Gene |
RCV000032435 | SCV000056091 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |