Submissions for variant NM_000117.3(EMD):c.465C>T (p.Tyr155=)

gnomAD frequency: 0.00404  dbSNP: rs143447675

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035107	SCV000058747	benign	not specified	2012-11-21	criteria provided, single submitter	clinical testing	Tyr155Tyr in exon 06 of EMD: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1.4% (54/3835) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs143447675).
GeneDx	RCV000035107	SCV000168328	benign	not specified	2014-03-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000234779	SCV000283518	benign	X-linked Emery-Dreifuss muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000035107	SCV000331087	benign	not specified	2016-01-26	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770591	SCV000902040	benign	Cardiomyopathy	2015-12-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035107	SCV000917314	benign	not specified	2018-07-09	criteria provided, single submitter	clinical testing	Variant summary: EMD c.465C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0013 in 87334 control chromosomes, including 69 hemizygotes (gnomAD). To our knowledge, no occurrence of c.465C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003761740	SCV004562075	benign	Emery-Dreifuss muscular dystrophy 1, X-linked	2023-09-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035107	SCV001922031	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035107	SCV001951795	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035107	SCV001972065	benign	not specified		no assertion criteria provided	clinical testing