Submissions for variant NM_024426.6(WT1):c.213G>T (p.Pro71=)

gnomAD frequency: 0.31689  dbSNP: rs2234582

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254527	SCV000314312	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000254527	SCV000341869	benign	not specified	2016-05-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367093	SCV000371508	benign	Nephrotic syndrome, type 4	2018-01-12	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	RCV000313693	SCV000371510	benign	Meacham syndrome	2018-01-12	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	RCV000354183	SCV000371511	benign	Wilms tumor 1	2018-01-12	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	RCV000254527	SCV000518967	benign	not specified	2016-04-05	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590459	SCV000699504	benign	not provided	2016-05-26	criteria provided, single submitter	clinical testing	Variant summary: The WT1 c.198G>T (p.Pro66Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3159/9576 control chromosomes (520 homozygotes) at a frequency of 0.3298872, which is approximately 35188 times the estimated maximal expected allele frequency of a pathogenic WT1 variant (0.0000094), suggesting this variant is a benign polymorphism. Additionally, one clinical lab has classified this variant as benign. Taken together and based on the high allele frequency in the general population, this variant was classified as Benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517368	SCV001725848	benign	Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244664	SCV002515091	benign	Drash syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002244663	SCV002515092	benign	Frasier syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000313693	SCV002515093	benign	Meacham syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000367093	SCV002515094	benign	Nephrotic syndrome, type 4	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000354183	SCV002515095	benign	Wilms tumor 1	2021-12-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000354183	SCV004016264	benign	Wilms tumor 1	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003588604	SCV004360962	benign	Nephroblastoma	2019-03-28	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000254527	SCV005087967	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 25% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 23. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000590459	SCV005316018	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000254527	SCV001928892	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000254527	SCV001969618	benign	not specified		no assertion criteria provided	clinical testing