ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2563G>A (p.Val855Met)

gnomAD frequency: 0.00027  dbSNP: rs200684031
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000951879 SCV001098328 likely benign Congenital myasthenic syndrome 8 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029830 SCV004871670 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.2563G>A (p.V855M) alteration is located in exon 15 (coding exon 15) of the AGRN gene. This alteration results from a G to A substitution at nucleotide position 2563, causing the valine (V) at amino acid position 855 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Neurology, Xiangya Hospital Central South University RCV000951879 SCV001916964 pathogenic Congenital myasthenic syndrome 8 2021-09-22 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.