ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3495T>C (p.Leu1165=)

gnomAD frequency: 0.00001  dbSNP: rs758902071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140478 SCV002456711 likely benign Renal cell carcinoma 2024-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337366 SCV002619214 likely benign Hereditary cancer-predisposing syndrome 2022-10-20 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. RCV005248503 SCV005898014 benign Papillary renal cell carcinoma type 1 2024-11-13 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.

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