Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312798 | SCV000847293 | uncertain significance | Inborn genetic diseases | 2019-02-06 | criteria provided, single submitter | clinical testing | The p.R2005Q variant (also known as c.6014G>A), located in coding exon 42 of the SZT2 gene, results from a G to A substitution at nucleotide position 6014. The arginine at codon 2005 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000817368 | SCV000957923 | uncertain significance | not provided | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2005 of the SZT2 protein (p.Arg2005Gln). This variant is present in population databases (rs200443293, gnomAD 0.02%). 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: 588078). 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"). 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. |
Gene |
RCV000817368 | SCV001772195 | uncertain significance | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002477655 | SCV002788116 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002477655 | SCV003920521 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2021-11-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in 0.001% (1/68022) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-43435309-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:588078). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Genome- |
RCV002477655 | SCV004178925 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000716452 | SCV001431099 | uncertain significance | Seizure | 2020-02-26 | no assertion criteria provided | clinical testing |