Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001921133 | SCV002194502 | uncertain significance | not provided | 2023-07-29 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 1415999). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 68 of the LZTR1 protein (p.Arg68Cys). |
| Ambry Genetics | RCV002423044 | SCV002719615 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-03-28 | criteria provided, single submitter | clinical testing | The p.R68C variant (also known as c.202C>T), located in coding exon 2 of the LZTR1 gene, results from a C to T substitution at nucleotide position 202. The arginine at codon 68 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly 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. |
| Baylor Genetics | RCV004571611 | SCV005060637 | uncertain significance | Schwannomatosis 2 | 2024-02-19 | criteria provided, single submitter | clinical testing |