Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318058 | SCV000849697 | uncertain significance | Inborn genetic diseases | 2017-05-26 | criteria provided, single submitter | clinical testing | The p.M2960V variant (also known as c.8878A>G), located in coding exon 64 of the SZT2 gene, results from an A to G substitution at nucleotide position 8878. The methionine at codon 2960 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, valine is the reference amino acid in other 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 | RCV001068001 | SCV001233088 | uncertain significance | not provided | 2022-09-07 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2960 of the SZT2 protein (p.Met2960Val). This variant is present in population databases (rs143624137, 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: 589117). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 |
RCV001068001 | SCV002765524 | uncertain significance | not provided | 2022-12-15 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV003141722 | SCV003818891 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003141722 | SCV004178054 | uncertain significance | Developmental and epileptic encephalopathy, 18 | 2023-04-11 | criteria provided, single submitter | clinical testing |