ClinVar Miner

Submissions for variant NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)

gnomAD frequency: 0.00005  dbSNP: rs369312680
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002228636 SCV000166425 likely benign Renal cell carcinoma 2025-01-17 criteria provided, single submitter clinical testing
Mendelics RCV000123123 SCV000838276 uncertain significance Papillary renal cell carcinoma type 1 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021780 SCV001183438 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-09 criteria provided, single submitter clinical testing The p.R1354Q variant (also known as c.4061G>A), located in coding exon 20 of the MET gene, results from a G to A substitution at nucleotide position 4061. The arginine at codon 1354 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465526 SCV002760417 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
GeneDx RCV003318551 SCV004022739 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29484624)
Baylor Genetics RCV004567065 SCV005057849 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2024-03-08 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000123123 SCV001749366 not provided Papillary renal cell carcinoma type 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-11-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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