ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1447+4C>T (rs587776577)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489749 SCV000577385 pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing The c.1432+4C>T variant in the WT1 gene has been reported previously in association with WT1-related disorders, including Frasier syndrome and nephrotic syndrome (Barbaux et al., 1997; Kikuchi et al., 1998; Melo et al., 2002; Cho et al., 2008; Binczak-Kuleta et al., 2014). This variant destroys the natural splice donor site in intron 9, and functional studies demonstrate abnormal gene splicing (Barbaux et al., 1997). The c.1432+4C>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1432+4C>T as a pathogenic variant.
OMIM RCV000003674 SCV000023837 pathogenic Frasier syndrome 2002-06-01 no assertion criteria provided literature only
OMIM RCV000003675 SCV000023838 pathogenic Diffuse mesangial sclerosis 2002-06-01 no assertion criteria provided literature only
Blueprint Genetics RCV000157584 SCV000207330 pathogenic Hereditary nephrotic syndrome 2014-11-27 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003818 SCV001162269 likely pathogenic Nephrotic range proteinuria no assertion criteria provided research

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