ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1084A>C (p.Met362Leu)

dbSNP: rs1791519202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222612 SCV001394720 uncertain significance Renal cell carcinoma 2022-07-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 950814). 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 methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 362 of the MET protein (p.Met362Leu).
Ambry Genetics RCV004639505 SCV005137424 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-19 criteria provided, single submitter clinical testing The p.M362L variant (also known as c.1084A>C), located in coding exon 1 of the MET gene, results from an A to C substitution at nucleotide position 1084. The methionine at codon 362 is replaced by leucine, 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.
GeneDx RCV004768933 SCV005377702 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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