ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)

gnomAD frequency: 0.00032  dbSNP: rs550455609
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255450 SCV000321603 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000524852 SCV000636474 uncertain significance Progressive myoclonic epilepsy 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 70 of the EPM2A protein (p.Glu70Gln). This variant is present in population databases (rs550455609, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with EPM2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 265122). 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 tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002317793 SCV000851344 uncertain significance Inborn genetic diseases 2016-11-21 criteria provided, single submitter clinical testing The p.E70Q variant (also known as c.208G>C), located in coding exon 1 of the EPM2A gene, results from a G to C substitution at nucleotide position 208. The glutamic acid at codon 70 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001801687 SCV002048544 uncertain significance Lafora disease 2021-10-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000255450 SCV002542242 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing

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