ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1430T>G (p.Val477Gly)

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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 RCV003762497 SCV004485754 uncertain significance Renal cell carcinoma 2022-12-02 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. This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 477 of the MET protein (p.Val477Gly).
Ambry Genetics RCV004943148 SCV005450888 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-03 criteria provided, single submitter clinical testing The c.1430T>G (p.V477G) alteration is located in exon 4 (coding exon 3) of the MET gene. This alteration results from a T to G substitution at nucleotide position 1430, causing the valine (V) at amino acid position 477 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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