Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001960337 | SCV002217584 | uncertain significance | Renal cell carcinoma | 2023-07-25 | 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: 1442699). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is present in population databases (rs768149852, gnomAD 0.003%). This sequence change affects codon 672 of the MET mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MET protein. |