Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000714621 | SCV000845333 | uncertain significance | Developmental and epileptic encephalopathy, 1 | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000714622 | SCV000845334 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316013 | SCV000848925 | uncertain significance | Inborn genetic diseases | 2017-02-03 | criteria provided, single submitter | clinical testing | The p.R1391H variant (also known as c.4172G>A), located in coding exon 29 of the SZT2 gene, results from a G to A substitution at nucleotide position 4172. The arginine at codon 1391 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly 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 | RCV001222205 | SCV001394296 | uncertain significance | not provided | 2021-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1391 of the SZT2 protein (p.Arg1391His). This variant is present in population databases (rs775153972, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 587458). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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- |
RCV000714622 | SCV004178851 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |