Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003153674 | SCV000623421 | uncertain significance | Renal cell carcinoma | 2023-04-28 | criteria provided, single submitter | clinical testing | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 454227). 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 replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 981 of the MET protein (p.Asp981Gly). 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. |
Sema4, |
RCV002255429 | SCV002532138 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-22 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255429 | SCV002747843 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-07 | criteria provided, single submitter | clinical testing | The p.D981G variant (also known as c.2942A>G) is located in coding exon 13 of the MET gene. The aspartic acid at codon 981 is replaced by glycine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 13. 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 variant remains unclear. |