Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317630 | SCV000851246 | uncertain significance | Inborn genetic diseases | 2016-09-14 | criteria provided, single submitter | clinical testing | The p.P3165L variant (also known as c.9494C>T), located in coding exon 68 of the SZT2 gene, results from a C to T substitution at nucleotide position 9494. The proline at codon 3165 is replaced by leucine, an amino acid with similar properties. This amino acid position is not 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. |
Invitae | RCV001221709 | SCV001393769 | uncertain significance | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | 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: 589922). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs531733494, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3165 of the SZT2 protein (p.Pro3165Leu). 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. |
Genome- |
RCV003457783 | SCV004178088 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |