ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.771G>T (p.Gln257His)

gnomAD frequency: 0.00001  dbSNP: rs1853140764
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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 RCV001317045 SCV001507687 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-04-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1017836). 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: "Probably Damaging"; 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. This variant has not been reported in the literature in individuals affected with WT1-related conditions. This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 252 of the WT1 protein (p.Gln252His). This variant is not present in population databases (gnomAD no frequency).

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