ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.887+4G>A (rs778673400)

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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 RCV000368224 SCV000371448 uncertain significance Wilms Tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261951 SCV000371449 uncertain significance Diffuse mesangial sclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319493 SCV000371450 uncertain significance Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353359 SCV000371451 uncertain significance Meacham syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470103 SCV000545504 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-12-12 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the WT1 gene. It does not directly change the encoded amino acid sequence of the WT1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs778673400, 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: 304421). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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