Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481306 | SCV000570073 | likely pathogenic | not provided | 2016-05-09 | criteria provided, single submitter | clinical testing | The c.338-2A>G variant in the ANO10 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 3. It is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.338-2A>G in this individual is unknown. The c.338-2A>G 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.338-2A>G as a likely pathogenic variant. |
Athena Diagnostics | RCV000481306 | SCV001143018 | pathogenic | not provided | 2018-08-27 | criteria provided, single submitter | clinical testing | The variant disrupts a canonical splice site, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data. |