Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694115 | SCV000822544 | pathogenic | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2020-01-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SETX are known to be pathogenic (PMID: 14770181). This variant has been reported in individuals affected with autosomal recessive ataxia with oculomotor apraxia (PMID: 17159128, 19696032). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1755Ilefs*31) in the SETX gene. It is expected to result in an absent or disrupted protein product. |