Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Neuberg Centre For Genomic Medicine, |
RCV003448869 | SCV004176679 | uncertain significance | Developmental and epileptic encephalopathy, 64 | 2023-03-01 | criteria provided, single submitter | clinical testing | The missense c.945C>A (p.His315Gln) variant in RHOBTB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His315Gln variant has allele freuency 0.0004% in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.His315Gln in RHOBTB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid His at position 315 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |
| Labcorp Genetics |
RCV003778502 | SCV004613371 | uncertain significance | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 337 of the RHOBTB2 protein (p.His337Gln). This variant is present in population databases (rs780789386, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RHOBTB2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |