ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)

gnomAD frequency: 0.00001  dbSNP: rs137852915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851604 SCV002247425 pathogenic Progressive myoclonic epilepsy 2022-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on EPM2A function (PMID: 12019207, 14532330, 14706656, 19403557). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 3100). This variant is also known as R107C. This missense change has been observed in individual(s) with Lafora disease (PMID: 9771710, 11175283). This variant is present in population databases (rs137852915, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 108 of the EPM2A protein (p.Arg108Cys).
OMIM RCV000003246 SCV000023404 pathogenic Lafora disease 2005-10-01 no assertion criteria provided literature only

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