ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.740A>T (p.His247Leu)

dbSNP: rs749860238
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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 RCV001349565 SCV001543916 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2020-06-21 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 242 of the WT1 protein (p.His242Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is present in population databases (rs749860238, ExAC 0.006%). 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: "Benign"; Align-GVGD: "Class C15"). 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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