ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2265-29A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003764299 SCV004529442 uncertain significance Renal cell carcinoma 2023-06-04 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 764 of the MET protein (p.Ile764Val).
Ambry Genetics RCV004374173 SCV005037810 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-09 criteria provided, single submitter clinical testing The p.I764V variant (also known as c.2290A>G), located in coding exon 9 of the MET gene, results from an A to G substitution at nucleotide position 2290. The isoleucine at codon 764 is replaced by valine, 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 alteration remains unclear.

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