ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.599T>G (p.Met200Arg)

dbSNP: rs2133101589
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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 RCV002038406 SCV002311051 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2021-10-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WT1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 195 of the WT1 protein (p.Met195Arg). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and arginine.

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