ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.404C>T (p.Pro135Leu) (rs769642496)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458098 SCV000545488 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 130 of the WT1 protein (p.Pro130Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. The frequency data for this variant (rs769642496) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has been observed in an individual affected with azoospermia and in an individual in the control population with an unknown sperm count (PMID: 25451826). ClinVar contains an entry for this variant (Variation ID: 406681). 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.
Mendelics RCV000709148 SCV000838439 uncertain significance Wilms tumor 1 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988520 SCV001138268 uncertain significance Drash syndrome 2019-05-28 criteria provided, single submitter clinical testing

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