ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.116_143del (p.Phe39fs)

dbSNP: rs1569552080
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
Athena Diagnostics RCV000711610 SCV000841992 pathogenic not provided 2016-05-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387916 SCV004099796 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2023-09-13 criteria provided, single submitter clinical testing Variant summary: EMD c.116_143del28 (p.Phe39SerfsX17) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 174440 control chromosomes (gnomAD). c.116_143del28 has been reported in the literature in at least one individual affected with X-Linked Emery-Dreifuss Muscular Dystrophy (e.g. Brown_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005092061 SCV005831672 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2024-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe39Serfs*17) in the EMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 21697856). ClinVar contains an entry for this variant (Variation ID: 585847). 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.