ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.26C>T (p.Pro9Leu)

gnomAD frequency: 0.00001  dbSNP: rs948132360
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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 RCV001071726 SCV001237045 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 4 of the WT1 protein (p.Pro4Leu). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 864517). 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.
Fulgent Genetics, Fulgent Genetics RCV002489716 SCV002797075 uncertain significance Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2022-02-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736969 SCV004565166 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing The WT1 c.26C>T; p.Pro9Leu variant (rs948132360), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 864517). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The proline at codon 9 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.091). Due to limited information, the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences RCV004740560 SCV005362361 uncertain significance WT1-related disorder 2024-05-15 no assertion criteria provided clinical testing The WT1 c.11C>T variant is predicted to result in the amino acid substitution p.Pro4Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0021% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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