MFN2 Q276R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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MFN2 Q276R

(MFN2 Gln276Arg)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the MFN2 gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2A
    Charcot-Marie-Tooth Neuropathy Type 2A2
  • Score: 0.616 (possibly damaging)
    Web search results (7 hits -- see all)
  • Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth
    Associated with functioning or mitochondrial targeting of MFN2 ... of visual loss: Q276R. Late onset visual loss: R94W. MFN2 mutations also produce: HMSN ...
    (MFN2) interaction that takes place in trans across two mitochondria. ... domain model of MFN2, showing the conserved GTPase domain and the proposed neck, ...
  • MFN2 mutation distribution and genotype/ phenotype ...
    Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 ... the distribution of mutations in MFN2 we screened 323 families and ...
  • WUSTL - Hereditary Motor Sensory Neuropathies: Charcot-Marie ...
    MFN2 deficiente topo: Inferiori mitocondriale mobilità. MFN2 proteina ... Mutazioni: R94W; T206; Q276R; H361Y; R418X. Alcuni pazienti con mutazioni rimangono ...
  • BMC Medical Genetics
    Recently, mutations in MFN2 have also been linked to. two rare forms of hereditary ... of MFN2. Electropherograms showing novel mutations in the MFN2 gene ...
  • Ruhr-Universität Bochum PD Dr. med. Moritz Meins Dienstort ...
    Das MFN2-Protein ist ein Transmembranprotein, welches in der ... Schematische Darstellung des MFN2-Proteins in der mitochondrialen Außenmembran ...
  • Inherited Peripheral Neuropathies
    Mutations in MFN2. Name. c.134A>G. Alias. Gln45Arg. Description. Point mutation in coding ... Q276R. Region. EX9. CDS. Date Added: ID: 798. Name. c.830A>G. Alias. His277Arg. Description. Point ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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