ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003037197 SCV003439516 pathogenic Progressive myoclonic epilepsy 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 86 of the EPM2A protein (p.Tyr86Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Lafora disease (PMID: 25246353). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2136482). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EPM2A protein function. For these reasons, this variant has been classified as Pathogenic.

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