Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003461854 | SCV004192589 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2023-05-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003594688 | SCV004266862 | uncertain significance | Renal cell carcinoma | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 280 of the MET protein (p.Arg280Thr). 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. 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 expected to disrupt MET protein function with a positive 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. |
Ambry Genetics | RCV004364779 | SCV005037975 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-04 | criteria provided, single submitter | clinical testing | The p.R280T variant (also known as c.839G>C), located in coding exon 1 of the MET gene, results from a G to C substitution at nucleotide position 839. The arginine at codon 280 is replaced by threonine, an amino acid with similar 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. Based on the available evidence, the clinical significance of this alteration remains unclear. |