ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.3328G>A (p.Val1110Ile) (rs786202724)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165679 SCV000216417 pathogenic Hereditary cancer-predisposing syndrome 2014-09-09 criteria provided, single submitter clinical testing Strong segregation with disease (lod >3 = >10 meioses);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other data supporting pathogenic classification;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Mendelics RCV000709041 SCV000838271 pathogenic Renal cell carcinoma, papillary, 1 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709041 SCV001228992 pathogenic Renal cell carcinoma, papillary, 1 2019-05-07 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1110 of the MET protein (p.Val1110Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed individuals affected with hereditary papillary renal cell carcinoma and has been shown to segregate with disease in multiple families (PMID: 10417759, 10433944, 15371818, 22717761, 24658158). This variant is also known as V1092I, c.3522G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 186141). This variant has been reported to affect MET protein function (PMID: 10417759). For these reasons, this variant has been classified as Pathogenic.
Database of Curated Mutations (DoCM) RCV000443267 SCV000505274 likely pathogenic Carcinoma 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425188 SCV000505275 likely pathogenic Neoplasm 2014-12-26 no assertion criteria provided literature only

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