ClinVar Miner

Submissions for variant NM_000245.4(MET):c.4144C>G (p.Arg1382Gly)

dbSNP: rs200315561
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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 RCV001022021 SCV001183709 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing The p.R1400G variant (also known as c.4198C>G), located in coding exon 20 of the MET gene, results from a C to G substitution at nucleotide position 4198. The arginine at codon 1400 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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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