ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226642 SCV001398963 pathogenic Progressive myoclonic epilepsy 2019-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr122Cysfs*6) in the EPM2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Lafora s progressive myoclonus epilepsy in a family (PMID: 12019207). This variant is also known as c.364_365insGT in the literature. Loss-of-function variants in EPM2A are known to be pathogenic (PMID: 20738377). For these reasons, this variant has been classified as Pathogenic.

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