Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001224682 | SCV001396896 | uncertain significance | not provided | 2023-01-29 | criteria provided, single submitter | clinical testing | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 952556). This missense change has been observed in individual(s) with clinical features of early-onset Parkinson disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs755749488, gnomAD 0.004%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 302 of the PRKN protein (p.His302Tyr). 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. |
Genetics and Molecular Pathology, |
RCV002272421 | SCV002556852 | uncertain significance | Autosomal recessive juvenile Parkinson disease 2 | 2021-06-30 | criteria provided, single submitter | clinical testing |