Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457536 | SCV000545199 | likely pathogenic | Hereditary spastic paraplegia 11 | 2016-09-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SPG11-related disease. This sequence change affects an acceptor splice site in intron 35 of the SPG11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |