ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.724G>A (p.Ala242Thr)

gnomAD frequency: 0.00001  dbSNP: rs1590395740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812931 SCV000953261 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-02-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 656498). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 237 of the WT1 protein (p.Ala237Thr). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Baylor Genetics RCV004569684 SCV005055878 uncertain significance Drash syndrome 2023-12-05 criteria provided, single submitter clinical testing

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