ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3808G>A (p.Gly1270Ser)

dbSNP: rs727504014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153492 SCV000203010 uncertain significance not provided 2014-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850098 SCV002289283 uncertain significance Renal cell carcinoma 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1288 of the MET protein (p.Gly1288Ser). 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: 167293). 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 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.
Ambry Genetics RCV002354358 SCV002619991 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-29 criteria provided, single submitter clinical testing The p.G1288S variant (also known as c.3862G>A), located in coding exon 19 of the MET gene, results from a G to A substitution at nucleotide position 3862. The glycine at codon 1288 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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