ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2887+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337808 SCV004048129 uncertain significance Papillary renal cell carcinoma type 1 criteria provided, single submitter clinical testing The splice site c.2941+1G>T variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in 1000 Genomes and in gnomAD. The nucleotide change in MET is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Since the above variant affects an invariable splice nucleotide it is expected to cause protein truncation. MET germline variants have not been reported previously in breast cancer. Somatic overexpression of MET proto-oncogene has been observed in breast cancer. Hence the above variant has been classified as Uncertain Significance

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