Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Brain and Spine Institute, |
RCV000236463 | SCV000262819 | pathogenic | Parkinson disease | 2015-11-16 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV004017487 | SCV004848452 | likely pathogenic | Young-onset Parkinson disease | 2020-08-11 | criteria provided, single submitter | clinical testing | The p.Gly1389Arg variant in VPS13C has been reported in 1 compound heterozygous individual with Parkinson disease (Lesage 2016 PMID: 26942284) and was absent from large population studies. It has also been reported in ClinVar (Variation ID 222070). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In addition, this variant is located in the first base of the exon, which is part of the 5’ splice region. Computational tools do not predict a splicing impact; however, RNA studies using patient's lymphocytes suggest a splicing impact (Lesage 2016 PMID: 26942284). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive parkinsonism. ACMG/AMP Criteria applied: PM2, PM3, PP3, PS3_Supporting. |
OMIM | RCV000210217 | SCV000266250 | pathogenic | Autosomal recessive early-onset Parkinson disease 23 | 2019-12-20 | no assertion criteria provided | literature only |