Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001933315 | SCV002190145 | uncertain significance | not provided | 2021-11-05 | 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. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (rs377445349, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 731 of the LZTR1 protein (p.Glu731Lys). |
| Ambry Genetics | RCV002425242 | SCV002728638 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-08-15 | criteria provided, single submitter | clinical testing | The p.E731K variant (also known as c.2191G>A), located in coding exon 18 of the LZTR1 gene, results from a G to A substitution at nucleotide position 2191. The glutamic acid at codon 731 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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 alteration remains unclear. |
| Baylor Genetics | RCV003471048 | SCV004191216 | uncertain significance | Schwannomatosis 2 | 2023-10-17 | criteria provided, single submitter | clinical testing |