ACADM R206C - GET-Evidence

Curation:
Currentness:

ACADM R206C

(ACADM Arg206Cys)


Short summary

Reported to cause Medium-chain acyl-coenzyme A dehydrogenase deficiency, a recessive disorder. This is recorded in ClinVar by Emory Genetics Lab (http://www.ncbi.nlm.nih.gov/clinvar/RCV000180087/). No additional data is avaliable, but the variant’s rarity seems consistent with this reported effect.

Variant evidence
Computational 1
Functional -
Case/Control 3

Consistent rare allele frequency

Familial -
 
Clinical importance
Severity 4
Treatability 1
Penetrance 5
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in