ClinVar Miner

Submissions for variant NM_000245.4(MET):c.522C>G (p.Asp174Glu)

dbSNP: rs863224696
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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 RCV001324214 SCV001515158 uncertain significance Renal cell carcinoma 2015-03-24 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant has not been published in the literature and is not present in population databases. This sequence change replaces aspartic acid with glutamic acid at codon 174 of the MET protein (p.Asp174Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.

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