ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1198T>C (p.Tyr400His) (rs746353651)

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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 RCV000363180 SCV000371428 uncertain significance Diffuse mesangial sclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270479 SCV000371429 uncertain significance Wilms Tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332520 SCV000371430 uncertain significance Meacham syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389905 SCV000371431 uncertain significance Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653775 SCV000775665 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 395 of the WT1 protein (p.Tyr395His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs746353651, ExAC 0.004%). This variant has not been reported in the literature in individuals with WT1-related disease. ClinVar contains an entry for this variant (Variation ID: 304419). 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. 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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