ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1172G>T (p.Gly391Val)

dbSNP: rs1584878602
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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 RCV002233875 SCV000935820 uncertain significance Renal cell carcinoma 2023-05-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 391 of the MET protein (p.Gly391Val). 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: 642784). 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. 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 RCV002256508 SCV002532097 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-09 criteria provided, single submitter curation
Ambry Genetics RCV002256508 SCV002633106 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter clinical testing The p.G391V variant (also known as c.1172G>T), located in coding exon 1 of the MET gene, results from a G to T substitution at nucleotide position 1172. The glycine at codon 391 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well 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.

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