ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.587G>A (p.Gly196Asp) (rs753112302)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313309 SCV000371464 uncertain significance Wilms Tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354093 SCV000371465 uncertain significance Diffuse mesangial sclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397632 SCV000371466 uncertain significance Meacham syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300609 SCV000371467 uncertain significance Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653778 SCV000775668 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-08-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 191 of the WT1 protein (p.Gly191Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs753112302, ExAC 0.003%). This variant has not been reported in the literature in individuals with WT1-related disease. ClinVar contains an entry for this variant (Variation ID: 304423). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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