ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)

dbSNP: rs1554965669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago 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.

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