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NM_024426.6(WT1):c.620T>G (p.Leu207Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 4, 2021)
Last evaluated:
Nov 3, 2021
Accession:
VCV000842948.5
Variation ID:
842948
Description:
single nucleotide variant
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NM_024426.6(WT1):c.620T>G (p.Leu207Arg)

Allele ID
838321
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 32434741 (GRCh38) GRCh38 UCSC
11: 32456287 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_525:g.5801T>G
NC_000011.10:g.32434741A>C
NC_000011.9:g.32456287A>C
... more HGVS
Protein change
L207R
Other names
-
Canonical SPDI
NC_000011.10:32434740:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1258754686
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Apr 17, 2018 RCV001102714.2
Uncertain significance 1 criteria provided, single submitter Oct 1, 2020 RCV001045458.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001102712.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001102713.1
Uncertain significance 1 criteria provided, single submitter Nov 3, 2021 RCV001759962.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WT1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
476 872
LOC107982234 - - - GRCh38 - 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Nephrotic syndrome, type 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259397.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Meacham syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259398.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Wilms tumor 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259399.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Wilms tumor 1
Drash syndrome
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Frasier syndrome
Allele origin: germline
Invitae
Accession: SCV001209311.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces leucine with arginine at codon 202 of the WT1 protein (p.Leu202Arg). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 17, 2018)
criteria provided, single submitter
Method: clinical testing
Wilms tumor 1
Allele origin: paternal
Baylor Genetics
Accession: SCV001530059.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Uncertain significance
(Nov 03, 2021)
criteria provided, single submitter
Method: clinical testing
Frasier syndrome
Allele origin: germline
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002011016.1
Submitted: (Nov 04, 2021)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1258754686...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 02, 2021