ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)

gnomAD frequency: 0.00012  dbSNP: rs61757376
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554307 SCV000636476 uncertain significance Progressive myoclonic epilepsy 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 137 of the EPM2A protein (p.Asn137Ser). This variant is present in population databases (rs61757376, gnomAD 0.03%). 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: 462931). 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.
GeneDx RCV001569249 SCV001793289 uncertain significance not provided 2021-01-22 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
Ambry Genetics RCV002527768 SCV003687389 uncertain significance Inborn genetic diseases 2022-09-29 criteria provided, single submitter clinical testing The c.410A>G (p.N137S) alteration is located in exon 2 (coding exon 2) of the EPM2A gene. This alteration results from a A to G substitution at nucleotide position 410, causing the asparagine (N) at amino acid position 137 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001569249 SCV005408029 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.