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NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 10, 2019)
Last evaluated:
May 17, 2018
Accession:
VCV000214651.2
Variation ID:
214651
Description:
single nucleotide variant
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NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)

Allele ID
210584
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 11992690 (GRCh38) GRCh38 UCSC
1: 12052747 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_255:g.17510G>T
LRG_255t1:c.311G>T LRG_255p1:p.Arg104Leu
NM_014874.3:c.311G>T NP_055689.1:p.Arg104Leu missense
... more HGVS
Protein change
R104L
Other names
-
Canonical SPDI
NC_000001.11:11992689:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA320635
dbSNP: rs863224068
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 May 17, 2018 RCV000711275.2
Pathogenic 1 criteria provided, single submitter Mar 27, 2017 RCV000532246.1
Uncertain significance 1 no assertion criteria provided - RCV000789063.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MFN2 No evidence available No evidence available GRCh38
GRCh37
771 818

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000657724.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces arginine with leucine at codon 104 of the MFN2 protein (p.Arg104Leu). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(May 17, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841611.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Apr 07, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705951.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928412.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)

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
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. Ando M Journal of the peripheral nervous system : JPNS 2017 PMID: 28660751
MFN2 mutations cause compensatory mitochondrial DNA proliferation. Sitarz KS Brain : a journal of neurology 2012 PMID: 22492563
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MFN2 - - - -

Text-mined citations for rs863224068...

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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