Submissions for variant NM_005670.4(EPM2A):c.159C>G (p.Ala53=)

gnomAD frequency: 0.63686  dbSNP: rs2235482

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081322	SCV000113242	benign	not specified	2017-12-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081322	SCV000311209	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000675705	SCV000677289	benign	not provided	2017-04-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311628	SCV000845980	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509746	SCV001716607	benign	Progressive myoclonic epilepsy	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576867	SCV001876074	benign	Lafora disease	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000675705	SCV001950649	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000081322	SCV005087283	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 94% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 87. Only high quality variants are reported.
Genetic Services Laboratory, University of Chicago	RCV000081322	SCV000151104	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000576867	SCV000734481	benign	Lafora disease		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675705	SCV000801418	benign	not provided	2015-10-19	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081322	SCV001931066	benign	not specified		no assertion criteria provided	clinical testing