ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) (rs2799068)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238604 SCV000297407 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000238604 SCV000564550 uncertain significance not specified 2017-09-25 criteria provided, single submitter clinical testing The E1547K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E1547K variant is observed in 143/15324 (0.93%) alleles from individuals of European background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved, and missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with congenital myasthenia syndrome (Stenson et al., 2014).
Genetic Services Laboratory,University of Chicago RCV000238604 SCV000593075 uncertain significance not specified 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000548184 SCV000653943 likely benign Myasthenic syndrome, congenital, 8 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093297 SCV001250209 uncertain significance not provided 2019-07-01 criteria provided, single submitter 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.