ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1858A>G (p.Asn620Asp)

gnomAD frequency: 0.00001  dbSNP: rs372116735
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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 RCV000469277 SCV000553335 uncertain significance Renal cell carcinoma 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 620 of the MET protein (p.Asn620Asp). This variant is present in population databases (rs372116735, gnomAD 0.006%). 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: 411920). 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 not expected to disrupt MET protein function with a negative predictive value of 80%. 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 RCV001013361 SCV001173940 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-17 criteria provided, single submitter clinical testing The p.N620D variant (also known as c.1858A>G), located in coding exon 5 of the MET gene, results from an A to G substitution at nucleotide position 1858. The asparagine at codon 620 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568085 SCV005057881 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2024-01-10 criteria provided, single submitter clinical testing

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