Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001965207 | SCV002213113 | uncertain significance | Renal cell carcinoma | 2025-02-03 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 870 of the MET protein (p.Met870Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MET-related conditions. ClinVar contains an entry for this variant (Variation ID: 1438566). 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 tolerated. 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. |
| Ambry Genetics | RCV002441080 | SCV002745220 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-06 | criteria provided, single submitter | clinical testing | The p.M870T variant (also known as c.2609T>C), located in coding exon 10 of the MET gene, results from a T to C substitution at nucleotide position 2609. The methionine at codon 870 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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 | RCV003471089 | SCV004192515 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2023-09-07 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004762263 | SCV005369326 | uncertain significance | not provided | 2023-07-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |