Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196450 | SCV001367058 | uncertain significance | Familial acute necrotizing encephalopathy | 2020-04-02 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Invitae | RCV001196450 | SCV002312882 | uncertain significance | Familial acute necrotizing encephalopathy | 2021-06-16 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 930641). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 586 of the RANBP2 protein (p.Gly586Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. |