Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003763349 | SCV004459466 | uncertain significance | Renal cell carcinoma | 2023-04-22 | 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. 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. 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 valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 370 of the MET protein (p.Val370Phe). |
Ambry Genetics | RCV004636806 | SCV005137390 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-18 | criteria provided, single submitter | clinical testing | The p.V370F variant (also known as c.1108G>T), located in coding exon 1 of the MET gene, results from a G to T substitution at nucleotide position 1108. The valine at codon 370 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |