Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001225485 | SCV001397767 | uncertain significance | Familial acute necrotizing encephalopathy | 2023-07-07 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 953226). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs200863740, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 3053 of the RANBP2 protein (p.Ser3053Leu). |
| Ambry Genetics | RCV002562600 | SCV003732887 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.9158C>T (p.S3053L) alteration is located in exon 28 (coding exon 28) of the RANBP2 gene. This alteration results from a C to T substitution at nucleotide position 9158, causing the serine (S) at amino acid position 3053 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |