Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001369417 | SCV001565856 | pathogenic | not provided | 2021-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 56 of the PRKN protein (p.Val56Glu). This variant is present in population databases (rs137853059, gnomAD 0.01%). This missense change has been observed in individual(s) with early-onset Parkinson disease (PMID: 12056932). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 7047). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects PRKN function (PMID: 15606901, 30994895). For these reasons, this variant has been classified as Pathogenic. |
Centogene AG - |
RCV000007463 | SCV002059553 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2020-03-16 | criteria provided, single submitter | clinical testing | |
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV000007463 | SCV002061374 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2022-01-07 | criteria provided, single submitter | research | |
OMIM | RCV000007463 | SCV000027663 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2002-06-01 | no assertion criteria provided | literature only |