Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481719 | SCV000572020 | likely pathogenic | not provided | 2016-10-21 | criteria provided, single submitter | clinical testing | The c.328-2A>G variant in the ANK1 gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. This splice site variant destroys the canonical spliceacceptor site in intron 4, which is predicted to cause abnormal gene splicing. The c.328-2A>G variantwas not observed in approximately 6500 individuals of European and African American ancestry inthe NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. Therefore, we interpret c.328-2A>G as a likely pathogenic variant |