Total submissions: 2
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 |