ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)

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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 RCV003062358 SCV003440268 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 453 of the WT1 protein (p.Cys453Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with WT1-related conditions (PMID: 9475094, 25818337, 28658201). This variant is also known as p.Cys385Arg. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Cys453 amino acid residue in WT1. Other variant(s) that disrupt this residue have been observed in individuals with WT1-related conditions (PMID: 27300205), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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