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NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 1, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000229634.3
Variation ID:
229634
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)

Allele ID
229186
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6300832 (GRCh38) GRCh38 UCSC
4: 6302559 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6302559C>T
NC_000004.12:g.6300832C>T
NM_006005.3:c.1037C>T MANE Select NP_005996.2:p.Pro346Leu missense
... more HGVS
Protein change
P346L
Other names
-
Canonical SPDI
NC_000004.12:6300831:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA2839198
dbSNP: rs773900146
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 6, 2015 RCV000221182.1
Likely pathogenic 1 criteria provided, single submitter Feb 1, 2021 RCV001291575.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WFS1 No evidence available No evidence available GRCh38
GRCh37
718 793

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 06, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272908.3
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Pro346Leu variant in WFS1 has been reported as compound heterozygous in 1 Caucasian individual with Wolfram syndrome (Cano 2007). This variant has also be … (more)
Likely pathogenic
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001480111.1
Submitted: (Feb 01, 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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Title Author Journal Year Link
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Cano A American journal of medical genetics. Part A 2007 PMID: 17568405

Text-mined citations for rs773900146...

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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 Jul 07, 2021