ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002454819 SCV002615504 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter clinical testing The p.I1123S variant (also known as c.3368T>G), located in coding exon 15 of the MET gene, results from a T to G substitution at nucleotide position 3368. The isoleucine at codon 1123 is replaced by serine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102357 SCV003304622 uncertain significance Renal cell carcinoma 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1123 of the MET protein (p.Ile1123Ser). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MET-related conditions.

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