Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494238 | SCV000583247 | likely pathogenic | not provided | 2016-08-10 | criteria provided, single submitter | clinical testing | The Q289X nonsense variant in the SPG7 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It 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. Additionally, other downstream nonsense pathogenic variants have been reported in Human Gene Mutation Database in association with spastic paraplegia (Stenson et al., 2014). |