ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)

dbSNP: rs1851742229
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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 RCV001315542 SCV001506120 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2020-03-10 criteria provided, single submitter clinical testing 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. This variant has been observed in individual(s) with Wilms tumor and renal dysfunction (PMID: 15957141). This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the WT1 mRNA. It is expected to extend the length of the WT1 protein by 22 additional amino acid residues.

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