ClinVar Miner

Submissions for variant NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)

gnomAD frequency: 0.00016  dbSNP: rs45578433
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001507181 SCV000262498 benign Renal cell carcinoma 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000205626 SCV000466463 benign Papillary renal cell carcinoma type 1 2018-01-12 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.
Ambry Genetics RCV000572804 SCV000673709 likely benign Hereditary cancer-predisposing syndrome 2018-05-08 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GeneDx RCV001705894 SCV000718206 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 30098700)
Mendelics RCV000205626 SCV001137464 likely benign Papillary renal cell carcinoma type 1 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572804 SCV002532163 likely benign Hereditary cancer-predisposing syndrome 2021-10-18 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000121350 SCV002550372 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945082 SCV004762725 likely benign MET-related condition 2023-05-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121350 SCV000085529 not provided not specified 2013-09-19 no assertion provided reference population

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