ACY1 R393H - GET-Evidence

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

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Curation:
Currentness:

ACY1 R393H

(ACY1 Arg393His)


Short summary

Reported to cause aminoacylase 1 deficiency in a recessive manner.

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr3:52023042: 0.4% (47/10758) in EVS
  • Frequency shown in summary reports: 0.4% (47/10758)

Publications
 

Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H. Neurological findings in aminoacylase 1 deficiency. Neurology. 2007 Jun 12;68(24):2151-3. PubMed PMID: 17562838.

Reported in a single case, believed to be causing deficiency in a compound heterozygous manner. Also believed to be a de novo mutation as the authors report not seeing it in the parents.

Genomes
 

 

Other external references
 

    PolyPhen-2
  • Score: 0.9 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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