ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.144G>A (p.Ala48=) (rs11762213)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079484 SCV000111364 benign not specified 2012-11-06 criteria provided, single submitter clinical testing
Invitae RCV000119121 SCV000153835 benign Renal cell carcinoma, papillary, 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129659 SCV000184457 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics,PreventionGenetics RCV000079484 SCV000306709 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119121 SCV000466424 benign Renal cell carcinoma, papillary, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000079484 SCV000513597 benign not specified 2017-02-17 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079484 SCV000604220 benign not specified 2018-08-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590508 SCV000697658 benign not provided 2016-08-18 criteria provided, single submitter clinical testing Variant summary: The MET c.144G>A (p.Ala48Ala) variant causes a synonymous change involving a non-conserved nucleotide. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3980/120670 (1/30, 106 homozygotes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic MET variant of 1/666666, suggesting this variant is likely a benign polymorphism. Multiple reputable clinical laboratories cite the variant as "benign." Therefore, the variant has been classified as Benign.
Athena Diagnostics Inc RCV000590508 SCV001144502 benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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