Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002531921 | SCV002998014 | uncertain significance | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 522423). This variant has not been reported in the literature in individuals affected with COQ2-related conditions. 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"). 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. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 285 of the COQ2 protein (p.Pro285Arg). |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625563 | SCV000746059 | likely pathogenic | Coenzyme Q10 deficiency, primary, 1 | 2017-09-18 | no assertion criteria provided | clinical testing |