ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)

dbSNP: rs1554946803
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653782 SCV000775672 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 5 of the WT1 protein (p.Ala5Tyr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 543119). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Sema4, Sema4 RCV002257918 SCV002530521 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-28 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002493051 SCV002798259 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-01-25 criteria provided, single submitter clinical testing
GeneDx RCV003228973 SCV003925860 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004568466 SCV005055861 uncertain significance Drash syndrome 2024-03-05 criteria provided, single submitter clinical testing

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