Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499673 | SCV000597086 | likely pathogenic | Early myoclonic encephalopathy | 2015-12-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636291 | SCV000757730 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2017-08-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC25A22 are known to be pathogenic (PMID: 15592994, 19780765). This variant has been reported in the literature in an individual affected with Ohtahara syndrome (PMID: 27864847). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln132*) in the SLC25A22 gene. It is expected to result in an absent or disrupted protein product. |