Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003216354 | SCV003911658 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-04-20 | criteria provided, single submitter | clinical testing | The c.242A>G (p.Y81C) alteration is located in exon 2 (coding exon 2) of the LZTR1 gene. This alteration results from a A to G substitution at nucleotide position 242, causing the tyrosine (Y) at amino acid position 81 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003720806 | SCV004507749 | uncertain significance | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 81 of the LZTR1 protein (p.Tyr81Cys). This variant is present in population databases (rs779864268, gnomAD 0.0009%). 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: 2496777). 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 with a negative predictive value of 80%. 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. |
| Baylor Genetics | RCV004572881 | SCV005060605 | uncertain significance | Schwannomatosis 2 | 2024-03-15 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003720806 | SCV005369585 | uncertain significance | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |