ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.86G>A (p.Cys29Tyr) (rs992227366)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653796 SCV000775686 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 24 of the WT1 protein (p.Cys24Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with WT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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