Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519542 | SCV000620593 | uncertain significance | not provided | 2017-09-05 | criteria provided, single submitter | clinical testing | The c.1870-3T>A variant in the ATP7A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 7, and may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.1870-3T>A in this individual is unknown. The c.1870-3T>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1870-3T>A as a variant of uncertain significance. |