Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001044003 | SCV001207775 | uncertain significance | Renal cell carcinoma | 2019-02-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MET-related conditions. This sequence change replaces aspartic acid with glycine at codon 1057 of the MET protein (p.Asp1057Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. |
Ambry Genetics | RCV004629413 | SCV005137303 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-07 | criteria provided, single submitter | clinical testing | The p.D1057G variant (also known as c.3170A>G), located in coding exon 14 of the MET gene, results from an A to G substitution at nucleotide position 3170. The aspartic acid at codon 1057 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |