ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)

gnomAD frequency: 0.00003  dbSNP: rs1172760612
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800744 SCV000940475 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-08-28 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 646456). 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 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 370 of the WT1 protein (p.Arg370Cys).
Ambry Genetics RCV002534651 SCV003757371 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.1108C>T (p.R370C) alteration is located in exon 7 (coding exon 7) of the WT1 gene. This alteration results from a C to T substitution at nucleotide position 1108, causing the arginine (R) at amino acid position 370 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003141796 SCV003823798 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing

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