ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2377C>T (p.Arg793Cys)

gnomAD frequency: 0.00002  dbSNP: rs45440991
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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 RCV002235103 SCV000958268 uncertain significance Renal cell carcinoma 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 811 of the MET protein (p.Arg811Cys). This variant is present in population databases (rs45440991, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MET-related conditions. ClinVar contains an entry for this variant (Variation ID: 660490). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MET protein function. 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.
Ambry Genetics RCV002453864 SCV002736672 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-30 criteria provided, single submitter clinical testing The p.R811C variant (also known as c.2431C>T), located in coding exon 10 of the MET gene, results from a C to T substitution at nucleotide position 2431. The arginine at codon 811 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569732 SCV005057840 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2024-03-14 criteria provided, single submitter clinical testing

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