Submissions for variant NM_024426.6(WT1):c.345C>T (p.Pro115=)

gnomAD frequency: 0.15374  dbSNP: rs1799925

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173525	SCV000224646	benign	not specified	2015-05-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000173525	SCV000314313	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363346	SCV000371488	benign	Wilms tumor 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000309796	SCV000371490	benign	Nephrotic syndrome, type 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000364660	SCV000371491	benign	Meacham syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000173525	SCV000518965	benign	not specified	2016-03-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000576511	SCV000677585	benign	Drash syndrome; Frasier syndrome; Nephrotic syndrome, type 4; Wilms tumor 1	2017-04-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588463	SCV000699503	benign	not provided	2016-05-26	criteria provided, single submitter	clinical testing	Variant summary: The WT1 c.330C>T (p.Pro110Pro) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant effect on splicing and ESE finder predicting effects on ESE binding sites. This variant was found in the large, broad control population, ExAC, with an allele frequency of 1620/4996 (285 homozygotes, 1/3, frequency: 0.3242594), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic WT1 variant of 1/106382 (0.0000094), suggesting this variant is likely a benign polymorphism. In addition, a reputable clinical laboratory cites the variant as "benign." Therefore, the variant of interest is classified as Benign.
Invitae	RCV001516886	SCV001725250	benign	Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243843	SCV002515080	benign	Drash syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243842	SCV002515081	benign	Frasier syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000364660	SCV002515082	benign	Meacham syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000309796	SCV002515083	benign	Nephrotic syndrome, type 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000363346	SCV002515084	benign	Wilms tumor 1	2021-12-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000363346	SCV004016261	benign	Wilms tumor 1	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003588587	SCV004360961	benign	Nephroblastoma	2019-03-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000173525	SCV001740872	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173525	SCV001931216	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000173525	SCV001963642	benign	not specified		no assertion criteria provided	clinical testing