Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232833 | SCV001405404 | uncertain significance | Familial acute necrotizing encephalopathy | 2022-07-19 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 959474). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs367864778, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2787 of the RANBP2 protein (p.Val2787Gly). |