ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.785-14G>A

dbSNP: rs375514482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995166 SCV002249703 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-10-11 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the WT1 gene. It does not directly change the encoded amino acid sequence of the WT1 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1470255). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002492178 SCV002777731 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-03-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464337 SCV004206926 uncertain significance Drash syndrome 2024-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011015 SCV004815845 uncertain significance Wilms tumor 1 2023-12-18 criteria provided, single submitter clinical testing This variant causes a G>A nucleotide substitution at the -14 position of intron 2 of the WT1 gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with WT1-related disorders in the literature. This variant has been identified in 5/258694 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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