EMD R157Q - GET-Evidence

Curation:
Currentness:

EMD R157Q

(EMD Arg157Gln)


Short summary

Reported by LapCorp to ClinVar as a “likely pathogenic” cause of cardiomyopathy: http://www.ncbi.nlm.nih.gov/clinvar/RCV000029690/ It’s unclear what inheritance pattern is proposed or what evidence is supports this hypothesis. This gene is usually associated with Emery-Dreifuss muscular dystrophy, and ExAC data indicates that this may be a low quality site in genome/exome sequencing.

Variant evidence
Computational
Functional
Case/Control

Unknown

Familial

Unknown

 
Clinical importance
Severity 4
Treatability 3
Penetrance 4
 

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

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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