Submissions for variant NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)

gnomAD frequency: 0.00197  dbSNP: rs146321088

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727316	SCV000240983	likely benign	not provided	2020-10-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000187396	SCV000613259	uncertain significance	not specified	2016-08-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084331	SCV000636478	likely benign	Progressive myoclonic epilepsy	2025-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727316	SCV000707488	uncertain significance	not provided	2017-04-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317095	SCV000850993	uncertain significance	Inborn genetic diseases	2019-01-02	criteria provided, single submitter	clinical testing	The p.R241Q variant (also known as c.722G>A), located in coding exon 4 of the EPM2A gene, results from a G to A substitution at nucleotide position 722. The arginine at codon 241 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
New York Genome Center	RCV004799194	SCV001441312	uncertain significance	Myoclonic epilepsy of Lafora 1	2020-02-13	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001331453	SCV001523495	uncertain significance	Lafora disease	2020-09-04	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000727316	SCV001714195	uncertain significance	not provided	2020-08-26	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001331453	SCV003833543	uncertain significance	Lafora disease	2019-11-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967473	SCV004779911	likely benign	EPM2A-related disorder	2024-01-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).