ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.3446T>C (p.Met1149Thr) (rs121913668)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565834 SCV000664700 pathogenic Hereditary cancer-predisposing syndrome 2016-11-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Structural Evidence,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Good segregation with disease (lod 1.5-3 = 5-9 meioses),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Invitae RCV000014895 SCV000944222 pathogenic Renal cell carcinoma, papillary, 1 2018-11-23 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1149 of the MET protein (p.Met1149Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with papillary renal cell carcinoma in two families (PMID: 9140397). ClinVar contains an entry for this variant (Variation ID: 13881). This variant has been reported to affect MET protein function (PMID: 9326629). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014895 SCV000035150 pathogenic Renal cell carcinoma, papillary, 1 1997-05-01 no assertion criteria provided literature only

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