ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)

gnomAD frequency: 0.01713  dbSNP: rs150359724
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116253 SCV000529532 benign not specified 2016-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081225 SCV000653868 benign Congenital myasthenic syndrome 8 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000545898 SCV001142972 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915133 SCV004731916 benign AGRN-related condition 2019-03-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV000116253 SCV000150171 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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