ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3692A>G (p.Asp1231Gly)

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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 RCV003176386 SCV003855750 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-11 criteria provided, single submitter clinical testing The p.D1249G variant (also known as c.3746A>G), located in coding exon 18 of the MET gene, results from an A to G substitution at nucleotide position 3746. The aspartic acid at codon 1249 is replaced by glycine, an amino acid with 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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