Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000543639 | SCV000641229 | uncertain significance | Autosomal recessive early-onset Parkinson disease 6 | 2022-03-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 312 of the PINK1 protein (p.Arg312Gln). This variant is present in population databases (rs202128685, gnomAD 0.006%). 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 465847). This missense change has been observed in individual(s) with Parkinson disease (PMID: 32713623). |
| Athena Diagnostics Inc | RCV003482283 | SCV004229843 | uncertain significance | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function. The variant is located in a region that is considered important for protein function and/or structure. |