Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001045698 | SCV001209567 | uncertain significance | Familial acute necrotizing encephalopathy | 2022-01-19 | 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 1407 of the RANBP2 protein (p.Arg1407Gln). This variant is present in population databases (rs146986427, gnomAD 0.007%). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 843146). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. |
| Ambry Genetics | RCV002553127 | SCV003540066 | uncertain significance | Inborn genetic diseases | 2022-06-29 | criteria provided, single submitter | clinical testing | The c.4220G>A (p.R1407Q) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 4220, causing the arginine (R) at amino acid position 1407 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |