Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000490094 | SCV000576900 | likely pathogenic | not provided | 2017-04-16 | criteria provided, single submitter | clinical testing | The c.242-1G>C variant in the GATA3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 2, which is predicted to cause abnormal gene splicing. The c.242-1G>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.242-1G>C as a likely pathogenic variant. |