ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)

dbSNP: rs750988816
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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 RCV002035390 SCV002234457 pathogenic Progressive myoclonic epilepsy 2024-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr86*) in the EPM2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EPM2A are known to be pathogenic (PMID: 20738377). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with progressive myoclonic epilepsy (PMID: 10932264). ClinVar contains an entry for this variant (Variation ID: 1451802). For these reasons, this variant has been classified as Pathogenic.

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