ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.242T>G (p.Leu81Arg)

dbSNP: rs2133105795
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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 RCV001367504 SCV001563856 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2020-03-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 76 of the WT1 protein (p.Leu76Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with WT1-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.

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