Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000539106 | SCV000653988 | uncertain significance | Congenital myasthenic syndrome 8 | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2023 of the AGRN protein (p.Gly2023Val). This variant is present in population databases (rs374160610, gnomAD 0.01%). 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: 474167). 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: "Probably 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. |
| Ambry Genetics | RCV003372755 | SCV004065151 | uncertain significance | Inborn genetic diseases | 2023-08-04 | criteria provided, single submitter | clinical testing | The c.6068G>T (p.G2023V) alteration is located in exon 36 (coding exon 36) of the AGRN gene. This alteration results from a G to T substitution at nucleotide position 6068, causing the glycine (G) at amino acid position 2023 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Mayo Clinic Laboratories, |
RCV003480686 | SCV004227710 | uncertain significance | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | PM2 |