Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000651356 | SCV000773207 | uncertain significance | Congenital myasthenic syndrome 8 | 2022-03-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 747 of the AGRN protein (p.Gln747His). This variant is present in population databases (rs144361725, gnomAD 0.008%). 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: 541148). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Eurofins Ntd Llc |
RCV000728880 | SCV000856499 | uncertain significance | not provided | 2017-08-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002531970 | SCV003687460 | uncertain significance | Inborn genetic diseases | 2022-08-01 | criteria provided, single submitter | clinical testing | The c.2241G>C (p.Q747H) alteration is located in exon 12 (coding exon 12) of the AGRN gene. This alteration results from a G to C substitution at nucleotide position 2241, causing the glutamine (Q) at amino acid position 747 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |