ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2015G>A (p.Gly672Asp)

dbSNP: rs2116923826
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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 RCV001896677 SCV002167733 uncertain significance Renal cell carcinoma 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 672 of the MET protein (p.Gly672Asp). This variant is not present in population databases (gnomAD no frequency). 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: 1400454). 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) indicates that this missense variant is expected to disrupt MET protein function with a positive 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.
Sema4, Sema4 RCV002256864 SCV002532117 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-27 criteria provided, single submitter curation
Ambry Genetics RCV002256864 SCV002724333 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-20 criteria provided, single submitter clinical testing The p.G672D variant (also known as c.2015G>A), located in coding exon 7 of the MET gene, results from a G to A substitution at nucleotide position 2015. The glycine at codon 672 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003471021 SCV004192470 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-10-16 criteria provided, single submitter clinical testing

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