ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
20420808 Zhao et al. (2010) report three mutations in VEGFA in a cohort of 192 individuals with left ventricular outflow tract obstruction (LVOTO). One mutation was a nonsense mutation, one mutation was a missense mutation, and one mutation was an internal tandem duplication resulting in a frameshift and a premature stop codon. All of these mutations were carried by unaffected family members suggesting either incomplete penetrance or an oligogenic etiology of LVOTO. The VEGFA gene was the only gene examined in this study, so the possibility that these mutations are not associated with disease can not be formally excluded.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity