ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research RCV003129592 SCV003804995 likely pathogenic Lafora disease 2023-03-01 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003746657 SCV004377227 pathogenic Progressive myoclonic epilepsy 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2431059). This premature translational stop signal has been observed in individual(s) with Lafora disease (PMID: 10932264). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp60*) 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).

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