ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)

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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 RCV003783572 SCV004570790 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr116*) in the WT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with bilateral Wilms tumor (PMID: 25688735). This variant is also known as c.144C>A (p.Y48X). For these reasons, this variant has been classified as Pathogenic.

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