Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001945057 | SCV002185578 | uncertain significance | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing | 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 LZTR1 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. ClinVar contains an entry for this variant (Variation ID: 1413570). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (rs5761750, gnomAD 0.07%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 571 of the LZTR1 protein (p.Glu571Lys). |
| Ambry Genetics | RCV002397904 | SCV002714690 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-06-29 | criteria provided, single submitter | clinical testing | The p.E571K variant (also known as c.1711G>A), located in coding exon 15 of the LZTR1 gene, results from a G to A substitution at nucleotide position 1711. The glutamic acid at codon 571 is replaced by lysine, an amino acid with 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. |
| Gene |
RCV001945057 | SCV004170183 | uncertain significance | not provided | 2023-04-07 | criteria provided, single submitter | clinical testing | 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 |
| Baylor Genetics | RCV003471047 | SCV004193648 | uncertain significance | Schwannomatosis 2 | 2023-06-04 | criteria provided, single submitter | clinical testing |