ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.32C>G (p.Ser11Cys)

gnomAD frequency: 0.00001  dbSNP: rs1412950681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366357 SCV001562658 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 6 of the WT1 protein (p.Ser6Cys). ClinVar contains an entry for this variant (Variation ID: 1057387). 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. 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.
Baylor Genetics RCV004570893 SCV005055864 uncertain significance Drash syndrome 2024-02-18 criteria provided, single submitter clinical testing

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