ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3569G>A (p.Arg1190His)

gnomAD frequency: 0.00006  dbSNP: rs149762107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651360 SCV000773211 uncertain significance Congenital myasthenic syndrome 8 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1190 of the AGRN protein (p.Arg1190His). This variant is present in population databases (rs149762107, 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: 541152). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004619368 SCV005113719 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.3569G>A (p.R1190H) alteration is located in exon 21 (coding exon 21) of the AGRN gene. This alteration results from a G to A substitution at nucleotide position 3569, causing the arginine (R) at amino acid position 1190 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV000651360 SCV001749326 not provided Congenital myasthenic syndrome 8 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-27-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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