ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4393C>T (p.Arg1465Trp)

gnomAD frequency: 0.00009  dbSNP: rs149011678
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816260 SCV000956760 uncertain significance Congenital myasthenic syndrome 8 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1465 of the AGRN protein (p.Arg1465Trp). This variant is present in population databases (rs149011678, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 659281). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002534893 SCV003579564 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.4393C>T (p.R1465W) alteration is located in exon 25 (coding exon 25) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 4393, causing the arginine (R) at amino acid position 1465 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.