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NM_014874.4(MFN2):c.491C>T (p.Ala164Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Apr 16, 2018
Accession:
VCV000549490.2
Variation ID:
549490
Description:
single nucleotide variant
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NM_014874.4(MFN2):c.491C>T (p.Ala164Val)

Allele ID
539959
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 11997313 (GRCh38) GRCh38 UCSC
1: 12057370 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.12057370C>T
NC_000001.11:g.11997313C>T
NG_007945.1:g.22133C>T
... more HGVS
Protein change
A164V
Other names
NM_001127660.1:c.491C>T(p.Ala164Val)
NM_014874.3:c.491C>T(p.Ala164Val)
Canonical SPDI
NC_000001.11:11997312:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553142699
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 Apr 16, 2018 RCV000664056.1
Uncertain significance 1 no assertion criteria provided - RCV000790032.1
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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
Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
Method: curation
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
Allele origin: germline
SIB Swiss Institute of Bioinformatics
Accession: SCV000787482.1
Submitted: (Apr 18, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as a Uncertain Significance, for Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000929422.1
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
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Nicholson GA Neurology 2008 PMID: 18458227

Text-mined citations for rs1553142699...

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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 30, 2021