ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1715G>T (p.Ser572Ile)

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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 RCV002760449 SCV003010880 uncertain significance Renal cell carcinoma 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 572 of the MET protein (p.Ser572Ile). 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004946041 SCV005450750 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-02 criteria provided, single submitter clinical testing The p.S572I variant (also known as c.1715G>T), located in coding exon 5 of the MET gene, results from a G to T substitution at nucleotide position 1715. The serine at codon 572 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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