DCAF8 R317C - GET-Evidence

Curation:
Currentness:

DCAF8 R317C

(DCAF8 Arg317Cys)


Short summary

Reported to cause axonal hereditary motor and sensory neuropathy in a dominant manner, with mild cardiomyopathy. Evidence for this may be weak: this report comes from a 2014 paper, Klein et al: http://www.ncbi.nlm.nih.gov/pubmed/24500646 and is recorded in ClinVar by OMIM: http://www.ncbi.nlm.nih.gov/clinvar/variation/133348/

Variant evidence
Computational -
Functional -
Case/Control 1

Rare in ExAC data, potentially consistent with hypothesis.

Familial 2

LOD 1.72, single family

 
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

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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