ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.632T>G (p.Leu211Trp) (rs45483396)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197671 SCV000254693 likely benign Renal cell carcinoma, papillary, 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000197671 SCV000466429 likely benign Renal cell carcinoma, papillary, 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000523221 SCV000618345 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing This variant is denoted MET c.632T>G at the cDNA level, p.Leu211Trp (L211W) at the protein level, and results in the change of a Leucine to a Tryptophan (TTG>TGG). This variant was observed in an individual with lung cancer (Krishnaswamy 2009). MET Leu211Trp was observed at an allele frequency of 0.03154% (38/120466) in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Leucine and Tryptophan differ in some properties, this is considered a semi-conservative amino acid substitution. MET Leu211Trp occurs at a position that is conserved across species and is located in the Sema domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether MET Leu211Trp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV001025145 SCV001187277 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Insufficient evidence

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