ClinVar Miner

Submissions for variant NM_000245.4(MET):c.71G>A (p.Gly24Glu)

gnomAD frequency: 0.00055  dbSNP: rs180985111
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001450079 SCV000218519 likely benign Renal cell carcinoma 2024-01-29 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210818 SCV000267041 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000210818 SCV000673696 benign Hereditary cancer-predisposing syndrome 2020-09-11 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.
Mendelics RCV000167873 SCV000838226 likely benign Papillary renal cell carcinoma type 1 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV001560219 SCV001782583 uncertain significance not provided 2023-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with lymphedema or breast cancer (Finegold et al., 2008; Guindalini et al., 2022); This variant is associated with the following publications: (PMID: 24728327, 25637381, 32171644, 24339735, 18564920, 35264596, 30530636)
Sema4, Sema4 RCV000210818 SCV002532182 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-01 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000121347 SCV004024373 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965017 SCV004780290 likely benign MET-related condition 2022-08-01 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 RCV000121347 SCV000085525 not provided not specified 2013-09-19 no assertion provided reference population
CSER _CC_NCGL, University of Washington RCV000148614 SCV000190329 likely benign Lymphedema 2014-06-01 no assertion criteria provided research

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