ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1465G>C (p.Glu489Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003182851 SCV003867871 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-05 criteria provided, single submitter clinical testing The p.E489Q variant (also known as c.1465G>C), located in coding exon 3 of the MET gene, results from a G to C substitution at nucleotide position 1465. The glutamic acid at codon 489 is replaced by glutamine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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