Submissions for variant NM_000117.3(EMD):c.611G>A (p.Arg204His)

gnomAD frequency: 0.00002  dbSNP: rs782642152

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551537	SCV000636288	likely benign	X-linked Emery-Dreifuss muscular dystrophy	2023-12-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618581	SCV000735532	uncertain significance	Cardiovascular phenotype	2019-05-29	criteria provided, single submitter	clinical testing	The p.R204H variant (also known as c.611G>A), located in coding exon 6 of the EMD gene, results from a G to A substitution at nucleotide position 611. The arginine at codon 204 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in conjunction with other genetic alterations by exome sequencing in a family with Ohdo syndrome, the Maat-Kievit-Brunner (MKB) type (Vulto-van Silfhout AT et al. Am J Hum Genet. 2013;92:401-6). 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.
CeGaT Center for Human Genetics Tuebingen	RCV000762691	SCV000893027	uncertain significance	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001829576	SCV002084706	uncertain significance	Emery-Dreifuss muscular dystrophy	2021-04-07	no assertion criteria provided	clinical testing