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NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Oct 23, 2020)
Last evaluated:
Oct 23, 2020
Accession:
VCV000016752.9
Variation ID:
16752
Description:
single nucleotide variant
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NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)

Allele ID
31791
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q21.3
Genomic location
10: 62813563 (GRCh38) GRCh38 UCSC
10: 64573323 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P11161:p.Arg359Trp
NC_000010.10:g.64573323G>A
NC_000010.11:g.62813563G>A
... more HGVS
Protein change
R359W, R309W
Other names
-
Canonical SPDI
NC_000010.11:62813562:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA126845
UniProtKB: P11161#VAR_009874
OMIM: 129010.0004
dbSNP: rs104894161
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 23, 2020 RCV000498897.3
Pathogenic 3 criteria provided, single submitter Dec 19, 2017 RCV000032120.6
Pathogenic 1 criteria provided, single submitter Aug 24, 2017 RCV000231023.2
Pathogenic 1 no assertion criteria provided Sep 1, 2005 RCV000018236.27
Pathogenic 1 no assertion criteria provided Sep 1, 2005 RCV000018237.23
Uncertain significance 1 no assertion criteria provided Aug 14, 2019 RCV000856959.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGR2 No evidence available No evidence available GRCh38
GRCh37
228 246

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 24, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000284825.3
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change replaces arginine with tryptophan at codon 359 of the EGR2 protein (p.Arg359Trp). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 14, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589657.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R359W variant in the EGR2 gene has been reported previously in the heterozygous state in multiple, unrelated individuals with Dejerine-Sottas neuropathy or CMT1D (Timmerman … (more)
Pathogenic
(Dec 19, 2017)
criteria provided, single submitter
Method: clinical testing
Dejerine-Sottas disease
(Autosomal dominant inheritance)
Allele origin: de novo
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001150099.1
Submitted: (Jan 21, 2020)
Evidence details
Pathogenic
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
(Unknown mechanism)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447847.1
Submitted: (Oct 23, 2020)
Evidence details
pathologic
(Oct 18, 2012)
no assertion criteria provided
Method: curation
Charcot-Marie-Tooth Neuropathy Type 1
Allele origin: not provided
GeneReviews
Accession: SCV000055669.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Sep 01, 2005)
no assertion criteria provided
Method: literature only
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
Allele origin: germline
OMIM
Accession: SCV000038515.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)
Pathogenic
(Sep 01, 2005)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D
Allele origin: germline
OMIM
Accession: SCV000038516.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929126.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Aug 14, 2019)
no assertion criteria provided
Method: research
Charcot-Marie-Tooth disease
Allele origin: germline
Genesis Genome Database
Accession: SCV000999524.1
Submitted: (Aug 19, 2019)
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
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome. Gargaun E Journal of neurology 2016 PMID: 27159987
Charcot-Marie-Tooth Neuropathy Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY Bird TD - 2015 PMID: 20301384
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Szigeti K Neurogenetics 2007 PMID: 17717711
Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. Mikesová E Neuromuscular disorders : NMD 2005 PMID: 16198564
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Chung KW Neurogenetics 2005 PMID: 15947997
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Boerkoel CF Neurogenetics 2001 PMID: 11523566
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Timmerman V Neurology 1999 PMID: 10371530
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Warner LE Human molecular genetics 1999 PMID: 10369870

Text-mined citations for rs104894161...

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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 Oct 24, 2021