Curation Status: Complete
| 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. |
NOTE:The loss of function score should be used to evaluate deletions, and the triplosensitivity score should be used to evaluated duplications. CNVs encompassing more than one gene must be evaluated in their totality (e.g. overall size, gain vs. loss, presence of other genes, etc). The rating of a single gene within the CNV should not necessarily be the only criteria by which one defines a clinical interpretation. Individual interpretations must take into account the phenotype described for the patient as well as issues of penetrance and expressivity of the disorder. ACMG has published guidelines for the characterization of postnatal CNVs, and these recommendations should be utilized (Genet Med (2011)13: 680-685). Exceptions to these interpretive correlations will occur, and clinical judgment should always be exercised.