ClinVar Genomic variation as it relates to human health
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
Variation ID: 3487 Accession: VCV000003487.22
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p13 11: 32392020 (GRCh38) [ NCBI UCSC ] 11: 32413566 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 21, 2016 Feb 28, 2024 Mar 14, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024426.6:c.1399C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_077744.4:p.Arg467Trp missense NM_000378.6:c.1348C>T NP_000369.4:p.Arg450Trp missense NM_001198551.2:c.748C>T NP_001185480.1:p.Arg250Trp missense NM_001198552.2:c.697C>T NP_001185481.1:p.Arg233Trp missense NM_001367854.1:c.211C>T NP_001354783.1:p.Arg71Trp missense NM_001407044.1:c.1393C>T NP_001393973.1:p.Arg465Trp missense NM_001407045.1:c.1348C>T NP_001393974.1:p.Arg450Trp missense NM_001407047.1:c.1276C>T NP_001393976.1:p.Arg426Trp missense NM_001407048.1:c.1258C>T NP_001393977.1:p.Arg420Trp missense NM_001407050.1:c.1225C>T NP_001393979.1:p.Arg409Trp missense NM_001407051.1:c.637C>T NP_001393980.1:p.Arg213Trp missense NM_024424.5:c.1399C>T NP_077742.3:p.Arg467Trp missense NM_024425.2:c.1333C>T NP_077743.2:p.Arg445Trp missense NR_160306.1:n.1731C>T non-coding transcript variant NR_176266.1:n.1680C>T NC_000011.10:g.32392020G>A NC_000011.9:g.32413566G>A NG_009272.1:g.48522C>T LRG_525:g.48522C>T LRG_525t1:c.1384C>T LRG_525p1:p.Arg462Trp LRG_525t2:c.748C>T LRG_525p2:p.Arg250Trp - Protein change
- R250W, R467W, R233W, R450W, R71W, R465W, R213W, R409W, R420W, R426W
- Other names
- R394W
- Canonical SPDI
- NC_000011.10:32392019:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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WT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
896 | 1644 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jul 25, 2019 | RCV000003656.6 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 1, 2007 | RCV000003657.4 | |
Pathogenic (1) |
no assertion criteria provided
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Oct 1, 2007 | RCV000003658.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 14, 2023 | RCV000467701.7 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 22, 2022 | RCV000484426.7 | |
Likely pathogenic (1) |
no assertion criteria provided
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- | RCV001003819.2 | |
Pathogenic (2) |
criteria provided, single submitter
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Feb 1, 2023 | RCV001290016.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 1, 2018 | RCV002293973.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 8, 2021 | RCV002482821.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Drash syndrome
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001138261.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Pathogenic
(Feb 01, 2018)
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criteria provided, single submitter
Method: clinical testing
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Kidney disorder
Affected status: unknown
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002587462.1
First in ClinVar: Oct 29, 2022 Last updated: Oct 29, 2022 |
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Pathogenic
(Dec 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000566934.6
First in ClinVar: Apr 27, 2017 Last updated: Dec 31, 2022 |
Comment:
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 … (more)
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) (less)
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Pathogenic
(Jul 06, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Athena Diagnostics Inc
Accession: SCV000616293.2
First in ClinVar: Apr 27, 2017 Last updated: Apr 27, 2017 |
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Pathogenic
(Jul 25, 2019)
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criteria provided, single submitter
Method: clinical testing
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Drash syndrome
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001521533.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
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Pathogenic
(Jul 08, 2021)
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criteria provided, single submitter
Method: clinical testing
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Aniridia 1
Frasier syndrome Mesothelioma, malignant Wilms tumor 1 11p partial monosomy syndrome Drash syndrome Nephrotic syndrome, type 4 Meacham syndrome
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002793374.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Feb 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Wilms tumor 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004040758.1
First in ClinVar: Oct 07, 2023 Last updated: Oct 07, 2023 |
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Pathogenic
(Mar 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Wilms tumor 1
Drash syndrome 11p partial monosomy syndrome Frasier syndrome
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000545498.7
First in ClinVar: Apr 17, 2017 Last updated: Feb 28, 2024 |
Comment:
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. … (more)
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). (less)
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Pathogenic
(Oct 01, 2007)
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no assertion criteria provided
Method: literature only
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DENYS-DRASH SYNDROME
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000023819.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 21, 2016 |
Comment on evidence:
In 7 unrelated patients with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1180C-T transition in exon 9 of the WT1 gene, resulting in … (more)
In 7 unrelated patients with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1180C-T transition in exon 9 of the WT1 gene, resulting in an arg394-to-trp (R394W) substitution in zinc finger-3. Most had the classic triad of pseudohermaphroditism, Wilms tumor, and nephrotic syndrome. Wilms tumors from 3 individuals and 1 juvenile granulosa cell tumor demonstrated reduction to homozygosity for the mutated WT1 allele. In vitro functional expression studies showed that the mutant WT1 protein was unable to bind DNA sequences. The findings indicated a dominant-negative mechanism. Bruening et al. (1992) identified the R394W mutation in a 46,XY individual with Drash syndrome reported by McCoy et al. (1983). The patient had ambiguous genitalia, rudimentary uterus, fimbriated fallopian tubes, and streak gonads. Baird et al. (1992) found the R394W mutation in 3 of 8 patients with Denys-Drash syndrome. Coppes et al. (1992) identified the R394W mutation in 2 of 3 patients with Denys-Drash syndrome. Unlike patients in previous reports, 1 of the patients inherited the mutant allele from his phenotypically unaffected father. The father had no abnormalities and, in particular, he had bilaterally descended testes of normal volume and a normal penis without hypospadias. He had donated his kidney for transplantation to his son with Denys-Drash syndrome. Little et al. (1993) reported the same mutation in Denys-Drash syndrome. Schumacher et al. (1998) identified the R394W mutation in 4 unrelated patients with early-onset nephrotic syndrome. Two of the patients had complete Denys-Drash syndrome, 1 had incomplete Denys-Drash syndrome without urogenital anomalies but with Wilms tumor, and the fourth had nephrotic syndrome type 4 (NPHS4; 256370) without urogenital anomalies or Wilms tumor. Renal biopsies showed diffuse mesangial sclerosis in 3 patients and focal segmental glomerulosclerosis in 1. Suri et al. (2007) identified a hemizygous R394W mutation in a patient with Meacham syndrome (608978). This 46,XY infant was born with ambiguous external genitalia, a single testis, and congenital diaphragmatic hernia. He showed unusually long survival, with death at age 3 years. (less)
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Pathogenic
(Oct 01, 2007)
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no assertion criteria provided
Method: literature only
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MEACHAM SYNDROME
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000023820.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 21, 2016 |
Comment on evidence:
In 7 unrelated patients with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1180C-T transition in exon 9 of the WT1 gene, resulting in … (more)
In 7 unrelated patients with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1180C-T transition in exon 9 of the WT1 gene, resulting in an arg394-to-trp (R394W) substitution in zinc finger-3. Most had the classic triad of pseudohermaphroditism, Wilms tumor, and nephrotic syndrome. Wilms tumors from 3 individuals and 1 juvenile granulosa cell tumor demonstrated reduction to homozygosity for the mutated WT1 allele. In vitro functional expression studies showed that the mutant WT1 protein was unable to bind DNA sequences. The findings indicated a dominant-negative mechanism. Bruening et al. (1992) identified the R394W mutation in a 46,XY individual with Drash syndrome reported by McCoy et al. (1983). The patient had ambiguous genitalia, rudimentary uterus, fimbriated fallopian tubes, and streak gonads. Baird et al. (1992) found the R394W mutation in 3 of 8 patients with Denys-Drash syndrome. Coppes et al. (1992) identified the R394W mutation in 2 of 3 patients with Denys-Drash syndrome. Unlike patients in previous reports, 1 of the patients inherited the mutant allele from his phenotypically unaffected father. The father had no abnormalities and, in particular, he had bilaterally descended testes of normal volume and a normal penis without hypospadias. He had donated his kidney for transplantation to his son with Denys-Drash syndrome. Little et al. (1993) reported the same mutation in Denys-Drash syndrome. Schumacher et al. (1998) identified the R394W mutation in 4 unrelated patients with early-onset nephrotic syndrome. Two of the patients had complete Denys-Drash syndrome, 1 had incomplete Denys-Drash syndrome without urogenital anomalies but with Wilms tumor, and the fourth had nephrotic syndrome type 4 (NPHS4; 256370) without urogenital anomalies or Wilms tumor. Renal biopsies showed diffuse mesangial sclerosis in 3 patients and focal segmental glomerulosclerosis in 1. Suri et al. (2007) identified a hemizygous R394W mutation in a patient with Meacham syndrome (608978). This 46,XY infant was born with ambiguous external genitalia, a single testis, and congenital diaphragmatic hernia. He showed unusually long survival, with death at age 3 years. (less)
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Pathogenic
(Oct 01, 2007)
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no assertion criteria provided
Method: literature only
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NEPHROTIC SYNDROME TYPE 4
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000023821.2
First in ClinVar: Apr 04, 2013 Last updated: Oct 21, 2016 |
Comment on evidence:
In 7 unrelated patients with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1180C-T transition in exon 9 of the WT1 gene, resulting in … (more)
In 7 unrelated patients with Denys-Drash syndrome (194080), Pelletier et al. (1991) identified a 1180C-T transition in exon 9 of the WT1 gene, resulting in an arg394-to-trp (R394W) substitution in zinc finger-3. Most had the classic triad of pseudohermaphroditism, Wilms tumor, and nephrotic syndrome. Wilms tumors from 3 individuals and 1 juvenile granulosa cell tumor demonstrated reduction to homozygosity for the mutated WT1 allele. In vitro functional expression studies showed that the mutant WT1 protein was unable to bind DNA sequences. The findings indicated a dominant-negative mechanism. Bruening et al. (1992) identified the R394W mutation in a 46,XY individual with Drash syndrome reported by McCoy et al. (1983). The patient had ambiguous genitalia, rudimentary uterus, fimbriated fallopian tubes, and streak gonads. Baird et al. (1992) found the R394W mutation in 3 of 8 patients with Denys-Drash syndrome. Coppes et al. (1992) identified the R394W mutation in 2 of 3 patients with Denys-Drash syndrome. Unlike patients in previous reports, 1 of the patients inherited the mutant allele from his phenotypically unaffected father. The father had no abnormalities and, in particular, he had bilaterally descended testes of normal volume and a normal penis without hypospadias. He had donated his kidney for transplantation to his son with Denys-Drash syndrome. Little et al. (1993) reported the same mutation in Denys-Drash syndrome. Schumacher et al. (1998) identified the R394W mutation in 4 unrelated patients with early-onset nephrotic syndrome. Two of the patients had complete Denys-Drash syndrome, 1 had incomplete Denys-Drash syndrome without urogenital anomalies but with Wilms tumor, and the fourth had nephrotic syndrome type 4 (NPHS4; 256370) without urogenital anomalies or Wilms tumor. Renal biopsies showed diffuse mesangial sclerosis in 3 patients and focal segmental glomerulosclerosis in 1. Suri et al. (2007) identified a hemizygous R394W mutation in a patient with Meacham syndrome (608978). This 46,XY infant was born with ambiguous external genitalia, a single testis, and congenital diaphragmatic hernia. He showed unusually long survival, with death at age 3 years. (less)
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Likely pathogenic
(-)
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no assertion criteria provided
Method: research
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Nephrotic range proteinuria
Steroid-resistant nephrotic syndrome
Affected status: yes
Allele origin:
unknown
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NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001162270.1
First in ClinVar: Feb 27, 2020 Last updated: Feb 27, 2020 |
Number of individuals with the variant: 1
Sex: male
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956490.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001927605.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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not provided
(-)
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no classification provided
Method: literature only
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Wilms tumor 1
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV001478073.2
First in ClinVar: Jan 26, 2021 Last updated: Oct 01, 2022 |
Comment:
The most common pathogenic variant
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Whole-genome sequencing of patients with rare diseases in a national health system. | Turro E | Nature | 2020 | PMID: 32581362 |
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. | Wang F | Pediatric nephrology (Berlin, Germany) | 2017 | PMID: 28204945 |
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. | Eggers S | Genome biology | 2016 | PMID: 27899157 |
Survey of variation in human transcription factors reveals prevalent DNA binding changes. | Barrera LA | Science (New York, N.Y.) | 2016 | PMID: 27013732 |
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. | Lehnhardt A | Clinical journal of the American Society of Nephrology : CJASN | 2015 | PMID: 25818337 |
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome. | Feng DN | Genetics and molecular research : GMR | 2014 | PMID: 25501161 |
The Wilms tumor gene, Wt1, is critical for mouse spermatogenesis via regulation of sertoli cell polarity and is associated with non-obstructive azoospermia in humans. | Wang XN | PLoS genetics | 2013 | PMID: 23935527 |
A familial WT1 mutation associated with incomplete Denys-Drash syndrome. | Zhu C | European journal of pediatrics | 2013 | PMID: 23715653 |
Disruption of genital ridge development causes aberrant primordial germ cell proliferation but does not affect their directional migration. | Chen SR | BMC biology | 2013 | PMID: 23497137 |
Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation. | Yu Z | Clinical kidney journal | 2012 | PMID: 26069768 |
WT1 gene mutations in three girls with nephrotic syndrome. | Ismaili K | European journal of pediatrics | 2008 | PMID: 17541636 |
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. | Suri M | American journal of medical genetics. Part A | 2007 | PMID: 17853480 |
Coexpression of Wilms' tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1. | Köhler B | Journal of molecular endocrinology | 2007 | PMID: 17496156 |
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. | Gao F | Molecular and cellular biology | 2004 | PMID: 15509792 |
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. | Royer-Pokora B | American journal of medical genetics. Part A | 2004 | PMID: 15150775 |
Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. | Matsuzawa-Watanabe Y | Oncogene | 2003 | PMID: 12970737 |
Constitutional WT1 correlate with clinical features in children with progressive nephropathy. | Takata A | Journal of medical genetics | 2000 | PMID: 11182928 |
Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. | Denamur E | Journal of the American Society of Nephrology : JASN | 1999 | PMID: 10505700 |
Proto-oncogene N-myc promoter is down regulated by the Wilms' tumor suppressor gene WT1. | Zhang X | Anticancer research | 1999 | PMID: 10470095 |
Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. | Schumacher V | Kidney international | 1998 | PMID: 9607189 |
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. | Jeanpierre C | American journal of human genetics | 1998 | PMID: 9529364 |
A clinical overview of WT1 gene mutations. | Little M | Human mutation | 1997 | PMID: 9090524 |
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. | Little M | Human molecular genetics | 1995 | PMID: 7795587 |
Molecular analysis of two Japanese cases of Denys-Drash syndrome. | Tsuda M | Journal of inherited metabolic disease | 1993 | PMID: 8295405 |
Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. | Baird PN | Human molecular genetics | 1992 | PMID: 1338906 |
Inherited WT1 mutation in Denys-Drash syndrome. | Coppes MJ | Cancer research | 1992 | PMID: 1327525 |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. | Bruening W | Nature genetics | 1992 | PMID: 1302008 |
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. | Pelletier J | Cell | 1991 | PMID: 1655284 |
Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. | McCoy FE Jr | The American journal of surgical pathology | 1983 | PMID: 6307071 |
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Text-mined citations for rs121907900 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.