Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001301353 | SCV001490519 | uncertain significance | Familial acute necrotizing encephalopathy | 2023-07-07 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1004620). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RANBP2 protein function. This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2437 of the RANBP2 protein (p.Asp2437Gly). |
| Ambry Genetics | RCV003355369 | SCV004075790 | uncertain significance | Inborn genetic diseases | 2023-06-23 | criteria provided, single submitter | clinical testing | The c.7310A>G (p.D2437G) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a A to G substitution at nucleotide position 7310, causing the aspartic acid (D) at amino acid position 2437 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |