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NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 29, 2018)
Last evaluated:
Jun 11, 2018
Accession:
VCV000002268.2
Variation ID:
2268
Description:
single nucleotide variant
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NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)

Allele ID
17307
Variant type
single nucleotide variant
Variant length
1bp
Cytogenetic location
1p36.22
Genomic location
1: 11992660 (GRCh38) GRCh38 UCSC
1: 12052717 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.11992660G>A
NC_000001.10:g.12052717G>A
NM_014874.3:c.281G>A NP_055689.1:p.Arg94Gln missense
... more HGVS
Protein change
R94Q
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: O95140#VAR_018609
OMIM: 608507.0001
dbSNP: rs28940291
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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, single submitter Apr 17, 2015 RCV000002356
Pathogenic 1 criteria provided, single submitter Oct 6, 2016 RCV000286431
Pathogenic 1 criteria provided, single submitter Jun 11, 2018 RCV000463055
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Gene OMIM ClinGen Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MFN2 No evidence available No evidence available GRCh38
GRCh37
319 357

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 17, 2015)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2A2
(Autosomal dominant inheritance)
Athena Diagnostics Inc
Accession: SCV000255680
Submitted: (Oct 06, 2015)
Evidence details
Publications
PubMed (5)
Pathogenic
(Oct 06, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided GeneDx
Accession: SCV000329569
Submitted: (Nov 28, 2017)
Evidence details
Comment: The R94Q variant has been reported multiple  (more...)
Pathogenic
(Jun 11, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2 Invitae
Accession: SCV000547922
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (12)
Comment: This sequence change replaces arginine with  (more...)
Pathogenic
(Apr 01, 2010)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A OMIM
Accession: SCV000022514
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. Høyer H BioMed research international 2014 PMID: 25025039
Application of whole exome sequencing in undiagnosed inherited polyneuropathies. Klein CJ Journal of neurology, neurosurgery, and psychiatry 2014 PMID: 24604904
MFN2 mutations cause compensatory mitochondrial DNA proliferation. Sitarz KS Brain : a journal of neurology 2012 PMID: 22492563
MFN2 mutations cause severe phenotypes in most patients with CMT2A. Feely SM Neurology 2011 PMID: 21508331
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. Guillet V FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011 PMID: 21285398
Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Cartoni R Brain : a journal of neurology 2010 PMID: 20418531
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. Braathen GJ BMC medical genetics 2010 PMID: 20350294
Phenotypic spectrum of MFN2 mutations in the Spanish population. Casasnovas C Journal of medical genetics 2010 PMID: 19889647
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings. Banchs I Neuromuscular disorders : NMD 2008 PMID: 18996695
Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A). Neusch C European journal of neurology 2007 PMID: 17437620
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Verhoeven K Brain : a journal of neurology 2006 PMID: 16714318
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Kijima K Human genetics 2005 PMID: 15549395
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Züchner S Nature genetics 2004 PMID: 15064763
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Saito M Neurology 1997 PMID: 9409358

Record last updated Oct 10, 2018