LDB3 S189L - GET-Evidence

Curation:
Currentness:

LDB3 S189L

(LDB3 Ser189Leu)


Short summary

Proposed to cause dominant dilated cardiomyopathy by Vatta et al 2003 (PMID: 14662268) based on observation in a single, small family. ExAC data indicates 1 out of 880 individuals carries this variant, while familial dilated cardiomyopathy has a prevalence of 1 in 5,000 to 10,000 individuals. Although penetrance for variants is incomplete, this allele frequency is much higher than the disease itself, and this hypothesis should be considered disproven.

Variant evidence
Computational -
Functional -
Case/Control 5
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Likely benign

(The "low clinical importance, likely" 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
 

    GeneTests
  • GeneTests records for the LDB3 gene
    Dilated Cardiomyopathy
    Myofibrillar Myopathy
    LDB3-Related Dilated Cardiomyopathy
    Zaspopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDB3

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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