Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482356 | SCV000571788 | likely pathogenic | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | The c.933-2A>G variant in the CHRND 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 8. It is predicted to cause abnormal gene splicing, either leading to an abnormalmessage that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if themessage is used for protein translation. The c.933-2A>G variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The c.933-2A>G variant isa strong candidate for a pathogenic variant, however the possibility it may be a rare benign variantcannot be excluded. |