ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)

dbSNP: rs121907905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512716 SCV003440269 likely pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2022-04-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 428 of the WT1 protein (p.Cys428Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of WT1-related conditions (PMID: 8388765; Invitae). This variant is also known as C360G. ClinVar contains an entry for this variant (Variation ID: 3496). 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.Cys428 amino acid residue in WT1. Other variant(s) that disrupt this residue have been observed in individuals with WT1-related conditions (PMID: 8411073, 20595692, 30963316; Invitae), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000003669 SCV000023832 pathogenic Drash syndrome 2016-10-18 no assertion criteria provided literature only

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