Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000799903 | SCV000939587 | uncertain significance | Renal cell carcinoma | 2023-09-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1390 of the MET protein (p.Glu1390Ala). 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: 645754). 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 | RCV002332624 | SCV002630433 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-26 | criteria provided, single submitter | clinical testing | The p.E1390A variant (also known as c.4169A>C), located in coding exon 20 of the MET gene, results from an A to C substitution at nucleotide position 4169. The glutamic acid at codon 1390 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is poorly 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 | RCV004569563 | SCV005057845 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2024-03-09 | criteria provided, single submitter | clinical testing |