ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.504G>T (p.Glu168Asp) (rs55985569)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079496 SCV000111378 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
Invitae RCV000119201 SCV000153942 benign Renal cell carcinoma, papillary, 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129671 SCV000184469 likely benign Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Vantari Genetics RCV000129671 SCV000267042 likely benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119201 SCV000466427 likely benign Renal cell carcinoma, papillary, 1 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000079496 SCV000518992 likely benign not specified 2017-12-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000034532 SCV000697662 benign not provided 2016-08-18 criteria provided, single submitter clinical testing Variant summary: The MET c.504G>T (p.Glu168Asp) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 441/120150 control chromosomes (1 homozygote) at a frequency of 0.0036704, which is approximately 2447 times the estimated maximal expected allele frequency of a pathogenic MET variant (0.0000015), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079496 SCV000885698 benign not specified 2019-06-18 criteria provided, single submitter clinical testing
Mendelics RCV000119201 SCV001137446 likely benign Renal cell carcinoma, papillary, 1 2019-05-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034532 SCV000043293 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000079496 SCV000085524 not provided not specified 2013-09-19 no assertion provided reference population

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