Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316781 | SCV000850510 | uncertain significance | Inborn genetic diseases | 2017-12-27 | criteria provided, single submitter | clinical testing | The p.L1601I variant (also known as c.4801T>A), located in coding exon 33 of the SZT2 gene, results from a T to A substitution at nucleotide position 4801. The leucine at codon 1601 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved through mammals but not in all 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 | RCV001217761 | SCV001389613 | uncertain significance | not provided | 2022-11-02 | 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: 589554). This variant has not been reported in the literature in individuals affected with SZT2-related conditions. This variant is present in population databases (rs745970630, gnomAD 0.009%). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1601 of the SZT2 protein (p.Leu1601Ile). |
Baylor Genetics | RCV001330841 | SCV001522669 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2020-01-23 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
New York Genome Center | RCV001330841 | SCV001815784 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2020-08-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001330841 | SCV004180170 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |