ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.769C>T (p.Gln257Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447756 SCV004175462 pathogenic Drash syndrome 2023-03-23 criteria provided, single submitter clinical testing The WT1 c.769C>T variant is classified as Pathogenic (PVS1, PS4_supporting, PM2) The WT1 c.769C>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 257 (PVS1). The variant has been reported in a germline sample from a patient with unilateral Wilms tumour (PMID:25688735) (PS4_supporting). This variant is absent from population databases (PM2). The variant has been reported as disease causing in the HGMD database (CM152297). It has not been reported in dbSNP or ClinVar. Note: this variant is also known as c.549C>T; p.(Gln184*).

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