ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2114G>A (p.Ser705Asn)

dbSNP: rs1003586623
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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 RCV001317415 SCV001508075 uncertain significance Renal cell carcinoma 2020-10-21 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MET-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 705 of the MET protein (p.Ser705Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.
Ambry Genetics RCV003375212 SCV004093352 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-29 criteria provided, single submitter clinical testing The p.S705N variant (also known as c.2114G>A), located in coding exon 8 of the MET gene, results from a G to A substitution at nucleotide position 2114. The serine at codon 705 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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