Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000576928 | SCV002975576 | uncertain significance | Parkinson disease 17 | 2022-02-09 | 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on VPS35 function (PMID: 25288323, 25533483, 26321632, 27385586). 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: 487671). This missense change has been observed in individual(s) with Parkinson disease (PMID: 21763482, 23408866). This variant is present in population databases (rs770029606, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 316 of the VPS35 protein (p.Pro316Ser). |
Gene |
RCV000576928 | SCV000679657 | not provided | Parkinson disease 17 | no assertion provided | literature only |