Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002243678 | SCV002512900 | uncertain significance | not provided | 2022-04-18 | criteria provided, single submitter | clinical testing | Identified in a patient with Parkinson disease with unknown family history in the published literature (Paisan-Ruiz et al., 2008); Variant showed reduced Ser910/Ser935 phosphorylation and 14-3-3 binding, and ability of this variant to interact weakly with 14-3-3 isoforms may prevent their accumulation within cytoplasmic pools (Nichols et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21885347, 22988870, 24488318, 19800393, 24470158, 19489756, 18973807, 20301387, 18213618, 20642453) |
Gene |
RCV000032418 | SCV000056074 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |