ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3287C>G (p.Thr1096Ser)

dbSNP: rs45592846
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364665 SCV001560825 uncertain significance Renal cell carcinoma 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1114 of the MET protein (p.Thr1114Ser). 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: 1055914). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV002322340 SCV002606643 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-14 criteria provided, single submitter clinical testing The p.T1114S variant (also known as c.3341C>G), located in coding exon 15 of the MET gene, results from a C to G substitution at nucleotide position 3341. The threonine at codon 1114 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154019 SCV003843788 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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