ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.878A>T (p.Gln293Leu)

dbSNP: rs796052427
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187395 SCV000240982 pathogenic not provided 2013-05-23 criteria provided, single submitter clinical testing p.Gln293Leu (CAG>CTG): c.878 A>T in exon 4 of the EPM2A gene (NM_005670.3). The Gln293Leu missense change has been reported previously as a homozygous mutation in two patients with Lafora disease (Minassian et al., 2000). This mutation alters a highly conserved position in the dual-specificity phosphatase domain (DSPD), and functional studies indicate that it alters subcellular localization of the laforin protein and interferes with the protein's ability to interact with other proteins in the glycogen synthesis pathway (Ganesh et al., 2002; Fernandez-Sanchez et al., 2003; Solaz-Fuster et al., 2008). Therefore, Gln293Leu is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).

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