ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.28G>T (p.Ala10Ser)

dbSNP: rs1351753257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988524 SCV001138272 uncertain significance Drash syndrome 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256642 SCV002530523 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-28 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004553528 SCV004116476 uncertain significance WT1-related disorder 2023-03-27 criteria provided, single submitter clinical testing The WT1 c.13G>T variant is predicted to result in the amino acid substitution p.Ala5Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare, and is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/802670/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769301 SCV004576813 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 5 of the WT1 protein (p.Ala5Ser). This variant is not present in population databases (gnomAD no frequency). 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: 802670). 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.

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