ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) (rs781291421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437398 SCV000520936 likely pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing The W165X variant in the EPM2A gene has been reported previously in an individual with Lafora disease, however no additional information was provided for this individual (Ianzano et al., 2004). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W165X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W165X as a likely pathogenic variant.
Invitae RCV000638315 SCV000759809 pathogenic Progressive myoclonic epilepsy 2019-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp165*) in the EPM2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781291421, ExAC 0.003%). This variant has been reported in an individual affected with Lafora disease (PMID: 14722920). ClinVar contains an entry for this variant (Variation ID: 381553). 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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