ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.658G>T (p.Glu220Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003589714 SCV004250218 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu220*) in the SLC25A22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A22 are known to be pathogenic (PMID: 15592994, 19780765). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. For these reasons, this variant has been classified as Pathogenic.

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