ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.543_556del (p.Tyr182fs) (rs1554946460)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519247 SCV000618300 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing This deletion of 14 nucleotides in WT1 is denoted c.528_541del14 at the cDNA level and p.Tyr177SerfsX17 (Y177SfsX17) at the protein level. The surrounding sequence is GTCG[del14]GTCC. The deletion causes a frameshift which changes a Tyrosine to a Serine at codon 177, and creates a premature stop codon at position 17 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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