ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.512G>A (p.Arg171His) (rs137852916)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469417 SCV000552393 uncertain significance Progressive myoclonic epilepsy 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 171 of the EPM2A protein (p.Arg171His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs137852916, ExAC 0.009%). This variant has been reported in individuals affected with Lafora disease (PMID: 9931343, 10932264, 12019207). Experimental studies have shown that this missense change results in reduced glycogen phosphatase activity (PMID: 25544560). In summary, this variant is a rare missense change that has been reported in both the general population and affected individuals. Enzyme assays have shown that this missense disrupts enzymatic activity of the EPM2A protein. However, the clinical significance of these findings are uncertain and segregation data is not available. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000003248 SCV000023406 pathogenic Lafora disease 2005-10-01 no assertion criteria provided literature only

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