Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313700 | SCV000848963 | uncertain significance | Inborn genetic diseases | 2017-02-07 | criteria provided, single submitter | clinical testing | The p.S3097P variant (also known as c.9289T>C), located in coding exon 67 of the SZT2 gene, results from a T to C substitution at nucleotide position 9289. The serine at codon 3097 is replaced by proline, 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 variant remains unclear. |
Invitae | RCV001862045 | SCV002216568 | uncertain significance | not provided | 2022-01-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 3097 of the SZT2 protein (p.Ser3097Pro). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 588763). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. |
Genome- |
RCV003457767 | SCV004178077 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |