ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3274G>T (p.Val1092Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037254 SCV003440156 uncertain significance Renal cell carcinoma 2023-04-20 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MET protein function. 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. This variant disrupts the p.Val1110 amino acid residue in MET. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10417759, 10433944, 15371818, 22717761, 24658158). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 2136594). This missense change has been observed in individual(s) with papillary renal cell carcinoma (PMID: 22717761). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1110 of the MET protein (p.Val1110Leu).

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