Submissions for variant NM_005670.4(EPM2A):c.620G>A (p.Arg207His)

gnomAD frequency: 0.00002  dbSNP: rs571938170

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726476	SCV000240975	likely benign	not provided	2019-04-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726476	SCV000344958	uncertain significance	not provided	2016-09-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088121	SCV001010679	likely benign	Progressive myoclonic epilepsy	2024-04-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362981	SCV002658151	uncertain significance	Inborn genetic diseases	2018-10-20	criteria provided, single submitter	clinical testing	The p.R207H variant (also known as c.620G>A), located in coding exon 3 of the EPM2A gene, results from a G to A substitution at nucleotide position 620. The arginine at codon 207 is replaced by histidine, 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 alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003977496	SCV004788126	likely benign	EPM2A-related disorder	2020-10-12	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).