ACADM S220L - GET-Evidence

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

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(ACADM Ser220Leu)

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

    Web search results (4 hits -- see all)
  • OMIM 607008 - Acil CoA deidrogenasi a catena media; ACADM
    In 2 casi, ACADM gene analisi rilevarono eterozigosità composta per the comune ... 9 della ACADM gene, causante in a ser220-to-leu (S220L) mutazione. ...
  • Mendelian Inheritance in Man Document Reader
    In 2 cases, ACADM gene analysis revealed compound heterozygosity for the common ... 607008.0003) and the S220L mutation (607008.0012), respectively. ...
  • OMIM 201450 - Carenza di acil CoA deidrogenasi a media catena
    ACADM CARENZA. MCAD CARENZA. MCADH CARENZA. CARNITINA CARENZA SECONDARIA ... 2 casi, le analisi del gene ACADM rilevarono eterozigosità composta per la mutazione ...
  • OMIM: 607008
    In 2 cases, ACADM gene analysis revealed compound heterozygosity for the common ... 9 of the ACADM gene, resulting in a ser220-to-leu (S220L) mutation. ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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