ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro)

dbSNP: rs2133107830
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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 RCV002023068 SCV002305836 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2021-08-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 variant, c.18_19delinsAC, is a complex sequence change that results in the deletion of 1 and insertion of 1 amino acid(s) in the WT1 protein (p.Thr7Pro).

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