ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)

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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 RCV003005568 SCV003304077 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-01-26 criteria provided, single submitter clinical testing This variant, c.1128_1136dup, results in the insertion of 3 amino acid(s) of the WT1 protein (p.Thr377_Val379dup), but otherwise preserves the integrity of the reading frame. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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