Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198856 | SCV000250052 | uncertain significance | not provided | 2017-06-09 | criteria provided, single submitter | clinical testing | The c.2132-7C>A variant in the ELN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. Splice-prediction programs suggest that this variant reduces the quality of the splice acceptor site in intron 33 and that this variant may create a cryptic acceptor site, which is expected to cause abnormal gene splicing. The c.2132-7C>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2132-7C>A as a variant of uncertain significance. |