ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.854G>C (p.Ser285Thr)

dbSNP: rs779813097
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232291 SCV001404841 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2019-08-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WT1-related conditions. This sequence change replaces serine with threonine at codon 280 of the WT1 protein (p.Ser280Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.

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