Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000235581 | SCV000294060 | likely pathogenic | not provided | 2016-03-09 | criteria provided, single submitter | clinical testing | The c.256+5G>C variant in the DYNC1H1 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 donor site in intron 1, and is expected to cause abnormal gene splicing. The c.256+5G>C variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.256+5G>C variant is a strong candidate for a pathogenic variant .However, the possibility it may be a rare benign variant cannot be excluded. |