Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000686802 | SCV000814337 | uncertain significance | Idiopathic generalized epilepsy | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. 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 RBFOX3 protein function. ClinVar contains an entry for this variant (Variation ID: 566873). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 78 of the RBFOX3 protein (p.Glu78Lys). |
| Ambry Genetics | RCV004026246 | SCV003749410 | uncertain significance | not specified | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.232G>A (p.E78K) alteration is located in exon 5 (coding exon 2) of the RBFOX3 gene. This alteration results from a G to A substitution at nucleotide position 232, causing the glutamic acid (E) at amino acid position 78 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |