ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1124A>G (p.Asn375Ser) (rs33917957)

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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 RCV000079482 SCV000111362 benign not specified 2013-10-15 criteria provided, single submitter clinical testing
Invitae RCV001507120 SCV000153816 benign Renal cell carcinoma 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163271 SCV000213799 benign Hereditary cancer-predisposing syndrome 2014-11-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics,PreventionGenetics RCV000079482 SCV000306706 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119105 SCV000466437 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 RCV000079482 SCV000513599 benign not specified 2016-01-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000034516 SCV000697655 benign not provided 2016-08-18 criteria provided, single submitter clinical testing Variant summary: The c.1124A>G (p.Asn375Ser) in MET gene is a missense change that involves a non-conserved nucleotide and 3/4 in silico tools predict benign outcome. The variant is present in the control population dataset of ExAC at an overall frequency 0.028 (3293/116530 chrs tested) including 105 homozygotes. This frequency exceeds the estimated maximum allele frequency for a pathogenic allele in this gene (0.0000015). The variant has not, to our knowledge, been reported in affected individuals, but is cited as Benign by a multiple reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
Athena Diagnostics Inc RCV000034516 SCV001144501 benign not provided 2018-11-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283222 SCV001158930 benign none provided 2020-06-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034516 SCV000043299 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000079482 SCV000085518 not provided not specified 2013-09-19 no assertion provided reference population

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