ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035776 SCV001199111 pathogenic Progressive myoclonic epilepsy 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 279 of the EPM2A protein (p.Gly279Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs137852917, ExAC 0.02%). This variant has been observed to segregate with late-onset Lafora disease in a family (PMID: 25246353). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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