Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000987955 | SCV001137462 | uncertain significance | Papillary renal cell carcinoma type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002549694 | SCV002952220 | uncertain significance | Renal cell carcinoma | 2022-07-29 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 802353). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 982 of the MET mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MET protein. |
| Ambry Genetics | RCV004030114 | SCV005038263 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | The c.2946G>A variant (also known as p.L982L), located in coding exon 13 of the MET gene, results from a G to A substitution at nucleotide position 2946. This nucleotide substitution does not change the at codon 982. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |