ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.432A>G (p.Glu144=) (rs377125466)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473962 SCV000550248 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2016-09-02 criteria provided, single submitter clinical testing This sequence change affects codon 432 of the EMD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EMD protein. This variant is present in population databases (rs377125466, ExAC 0.07%) but has not been reported in the literature in individuals with a EMD-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000613194 SCV000728379 likely benign not specified 2017-12-07 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.

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.