ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.466G>C (p.Gly156Arg)

dbSNP: rs144594695
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726441 SCV000344661 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000396796 SCV000512933 likely benign not specified 2017-01-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000695175 SCV000823658 likely benign X-linked Emery-Dreifuss muscular dystrophy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298348 SCV003995845 uncertain significance Cardiovascular phenotype 2023-03-31 criteria provided, single submitter clinical testing The p.G156R variant (also known as c.466G>C), located in coding exon 6 of the EMD gene, results from a G to C substitution at nucleotide position 466. The glycine at codon 156 is replaced by arginine, an amino acid with dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of <0.01% (12/183014) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.02% (1/4518) of Other alleles. This amino acid position is not 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000726441 SCV001959292 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726441 SCV001968900 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.