Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802881 | SCV000942728 | uncertain significance | not provided | 2023-08-24 | 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 SZT2 protein function. ClinVar contains an entry for this variant (Variation ID: 648206). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs200187525, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3101 of the SZT2 protein (p.Arg3101Gln). |
Ambry Genetics | RCV002370125 | SCV002686573 | uncertain significance | Inborn genetic diseases | 2017-07-21 | criteria provided, single submitter | clinical testing | The p.R3101Q variant (also known as c.9302G>A), located in coding exon 67 of the SZT2 gene, results from a G to A substitution at nucleotide position 9302. The arginine at codon 3101 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003457810 | SCV004178078 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |