Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002416947 | SCV002718598 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-10-28 | criteria provided, single submitter | clinical testing | The p.E665K variant (also known as c.1993G>A), located in coding exon 17 of the LZTR1 gene, results from a G to A substitution at nucleotide position 1993. The glutamic acid at codon 665 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003121023 | SCV003785319 | uncertain significance | not provided | 2022-05-20 | 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 665 of the LZTR1 protein (p.Glu665Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. 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: "Benign"; Align-GVGD: "Class C15"). |
| Baylor Genetics | RCV003465747 | SCV004193669 | uncertain significance | Schwannomatosis 2 | 2023-05-10 | criteria provided, single submitter | clinical testing |