ClinVar Miner

Submissions for variant NM_000245.4(MET):c.709G>A (p.Val237Ile)

dbSNP: rs757402499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002234110 SCV000828286 uncertain significance Renal cell carcinoma 2018-04-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 237 of the MET protein (p.Val237Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs757402499, ExAC 0.001%). This variant has not been reported in the literature in individuals with MET-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably 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.

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