ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.649A>G (p.Ile217Val)

dbSNP: rs1384974578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709142 SCV000838433 uncertain significance Wilms tumor 1 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001067017 SCV001232046 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 212 of the WT1 protein (p.Ile212Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 584758). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV000709142 SCV004012073 likely pathogenic Wilms tumor 1 2023-07-08 criteria provided, single submitter clinical testing The variant in affected individual is heterozygous. The affected individual has bilateral Wilms tumour. In summary, the p.Ile217Val variant meets our criteria to be classified as likely pathogenic.

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