ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1555G>T (p.Ala519Ser)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004723691 SCV005329359 uncertain significance Congenital myasthenic syndrome 8 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.1555G>T(p.Ala519Ser) variant in AGRN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.0004% in the gnomAD Exomes. The amino acid Ala at position 519 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala519Ser in AGRN is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (SIFT - Tolerated, and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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.