ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002296280 SCV002594742 uncertain significance Renal cell carcinoma 2022-09-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with MET-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1193 of the MET protein (p.Asn1193Ser).
Ambry Genetics RCV003355853 SCV004055788 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-04 criteria provided, single submitter clinical testing The p.N1193S variant (also known as c.3578A>G), located in coding exon 17 of the MET gene, results from an A to G substitution at nucleotide position 3578. The asparagine at codon 1193 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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