Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467701 | SCV000545498 | pathogenic | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2023-03-14 | criteria provided, single submitter | clinical testing | 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects WT1 function (PMID: 1655284, 15509792). ClinVar contains an entry for this variant (Variation ID: 3487). This variant is also known as c.1180C>T (p.R394W). This missense change has been observed in individual(s) with Denys-Drash syndrome, Wilms tumor, Meacham syndrome, and diffuse mesangial sclerosis with pseudohermaphroditism and/or Wilms tumor (PMID: 1327525, 1338906, 9529364, 17853480, 23715653). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 462 of the WT1 protein (p.Arg462Trp). |
Gene |
RCV000484426 | SCV000566934 | pathogenic | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect: variant abolishes DNA binding (Little 1995, Duarte 1998, Barrera 2016); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Arg394Trp; This variant is associated with the following publications: (PMID: 25818337, 10470095, 25501161, 28921387, 28204945, 9460996, 26069768, 20595692, 31937884, 24402088, 15509792, 11299720, 23715653, 27013732, 27899157, 28068926, 28476686, 28720077, 29869118, 28851938, 29982877, 29320783, 29801916, 30963316, 31278746, 31707902, 1655284, 27300205, 1327525, 7795587, 8486616, 32581362, 34031707, 33742552, 32604935, 32352694, 29294058, 34386660) |
Athena Diagnostics Inc | RCV000484426 | SCV000616293 | pathogenic | not provided | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000003656 | SCV001138261 | pathogenic | Drash syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000003656 | SCV001521533 | pathogenic | Drash syndrome | 2019-07-25 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome Diagnostics Laboratory, |
RCV002293973 | SCV002587462 | pathogenic | Kidney disorder | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482821 | SCV002793374 | pathogenic | Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001290016 | SCV004040758 | pathogenic | Wilms tumor 1 | 2023-02-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003656 | SCV000023819 | pathogenic | Drash syndrome | 2007-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000003657 | SCV000023820 | pathogenic | Meacham syndrome | 2007-10-01 | no assertion criteria provided | literature only | |
OMIM | RCV000003658 | SCV000023821 | pathogenic | Nephrotic syndrome, type 4 | 2007-10-01 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003819 | SCV001162270 | likely pathogenic | Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria | no assertion criteria provided | research | ||
Gene |
RCV001290016 | SCV001478073 | not provided | Wilms tumor 1 | no assertion provided | literature only | The most common pathogenic variant | |
Genome Diagnostics Laboratory, |
RCV000484426 | SCV001927605 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000484426 | SCV001956490 | pathogenic | not provided | no assertion criteria provided | clinical testing |