MFN2 H165D - GET-Evidence

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

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MFN2 H165D

(MFN2 His165Asp)

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: 0.999 (probably damaging)
    Web search results (7 hits -- see all)
  • Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth
    Axonal mitochondrial pathology: MFN2. Other hereditary motor-sensory neuropathies. Often ... HMSN V (CMT with pyramidal features): H165D mutation. HMSN VI (HMSN & Optic atrophy) ...
    (MFN2) interaction that takes place in trans across two mitochondria. ... domain model of MFN2, showing the conserved GTPase domain and the proposed neck, ...
  • WUSTL - Hereditary Motor Sensory Neuropathies: Charcot-Marie ...
    MFN2 proteina mutante: Possono avere effetto dominante negativo ... CMT con piramidali caratteristiche (HMSN V): MFN2 missensi mutazione H165D ...
  • 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.493C>G. Alias. His165Asp. Description. Point mutation in coding ... H165D. Region. EX6. CDS. GTPase. Date Added: 14-Feb-07. ID: 844. About Us ...
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Mutations in MFN2. Name. c.134A>G. Alias. Gln45Arg. Description. Point mutation in coding ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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