ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1444G>A (p.Asp482Asn)

gnomAD frequency: 0.00001  dbSNP: rs863224694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312204 SCV000254676 uncertain significance Renal cell carcinoma 2023-09-06 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MET protein function. ClinVar contains an entry for this variant (Variation ID: 216498). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 482 of the MET protein (p.Asp482Asn).
Mendelics RCV000198703 SCV000838249 uncertain significance Papillary renal cell carcinoma type 1 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765919 SCV000897339 uncertain significance Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390535 SCV002697907 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-16 criteria provided, single submitter clinical testing The p.D482N variant (also known as c.1444G>A), located in coding exon 3 of the MET gene, results from a G to A substitution at nucleotide position 1444. The aspartic acid at codon 482 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV004725056 SCV005333679 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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