ClinVar Miner

Submissions for variant NM_000245.4(MET):c.669A>G (p.Lys223=)

gnomAD frequency: 0.00001  dbSNP: rs863224380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196931 SCV000253350 likely benign Renal cell carcinoma 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567111 SCV000673788 likely benign Hereditary cancer-predisposing syndrome 2016-08-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Myriad Genetics, Inc. RCV005246776 SCV005897728 benign Papillary renal cell carcinoma type 1 2024-11-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004745270 SCV005363944 likely benign MET-related disorder 2024-03-09 no assertion criteria provided 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).

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