Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002234335 | SCV000939059 | uncertain significance | Renal cell carcinoma | 2018-12-01 | 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, but this prediction has not been confirmed by published transcriptional studies. 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 1017 of the MET protein (p.Glu1017Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
Ambry Genetics | RCV004944166 | SCV005450765 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-17 | criteria provided, single submitter | clinical testing | The p.E1017V variant (also known as c.3050A>T), located in coding exon 13 of the MET gene, results from an A to T substitution at nucleotide position 3050. The glutamic acid at codon 1017 is replaced by valine, an amino acid with dissimilar 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. |