Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485054 | SCV000571434 | likely pathogenic | not provided | 2016-08-26 | criteria provided, single submitter | clinical testing | The c.1983+1G>T variant in the TUBGCP6 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 donor site in intron 10. The c.1983+1G>T variant is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1983+1G>T variant was not observed in approximately 6500 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.1983+1G>T variant in the TUBGCP6 gene is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |