ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1238G>A (p.Arg413His)

gnomAD frequency: 0.00001  dbSNP: rs375391602
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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 RCV001312224 SCV000623371 likely benign Renal cell carcinoma 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570024 SCV000673731 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-06 criteria provided, single submitter clinical testing The p.R413H variant (also known as c.1238G>A), located in coding exon 2 of the MET gene, results from a G to A substitution at nucleotide position 1238. The arginine at codon 413 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Mendelics RCV000527361 SCV000838248 uncertain significance Papillary renal cell carcinoma type 1 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV001576084 SCV001803199 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with a history of breast cancer (Guindalini et al., 2022); This variant is associated with the following publications: (PMID: 35264596)

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