ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.262G>T (p.Val88Phe)

dbSNP: rs1410971862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203276 SCV001374432 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2019-08-30 criteria provided, single submitter clinical testing 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 sequence change replaces valine with phenylalanine at codon 83 of the WT1 protein (p.Val83Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant has not been reported in the literature in individuals 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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