ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3560A>G (p.Gln1187Arg)

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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 RCV002452244 SCV002617714 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-21 criteria provided, single submitter clinical testing The p.Q1205R variant (also known as c.3614A>G), located in coding exon 17 of the MET gene, results from an A to G substitution at nucleotide position 3614. The glutamine at codon 1205 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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