ClinVar Miner

Submissions for variant NM_000245.4(MET):c.4091C>T (p.Pro1364Leu)

gnomAD frequency: 0.00017  dbSNP: rs752791731
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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 RCV000236160 SCV000294283 likely benign Renal cell carcinoma 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563886 SCV000673730 likely benign Hereditary cancer-predisposing syndrome 2020-06-02 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.
GeneDx RCV001764222 SCV002008262 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35085662)

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