MFN2 G298R - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


MFN2 G298R

(MFN2 Gly298Arg)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • A @ chr1:12061533: 0.3% (37/10758) in EVS
  • Frequency shown in summary reports: 0.3% (37/10758)



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 (benign)
    Web search results (2 hits -- see all)
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Mutations in MFN2. Name. c.314C>T. Alias. Thr105Met. Description. Point mutation in coding ...
  • Inherited Peripheral Neuropathies
    Mutations in MFN2. Name. c.134A>G. Alias. Gln45Arg. Description. Point ... G298R. Region. EX9. CDS. Date Added: 12-Dec-06. ID: 824. Name. c.957C>T. Alias. Gly319Gly ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

Log in