ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.3G>A (p.Met1Ile) (rs886044771)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000518435 SCV000331275 pathogenic not provided 2015-06-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518435 SCV000613254 pathogenic not provided 2014-12-19 criteria provided, single submitter clinical testing
Invitae RCV001068392 SCV001233504 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2019-11-29 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the EMD mRNA. The next in-frame methionine is located at codon 73. This variant is not present in population databases (ExAC no frequency). Disruption of the initiator codon has been observed in individual(s) with X-linked Emery-Dreifuss muscular dystrophy (PMID: 7894480, 8595406, 10399752, 19997654, 21697856). ClinVar contains an entry for this variant (Variation ID: 281087). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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.