Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001047317 | SCV001211267 | uncertain significance | Congenital myasthenic syndrome 8 | 2021-09-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 1380 of the AGRN protein (p.Arg1380Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with AGRN-related conditions. 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. |
| Athena Diagnostics Inc | RCV001664642 | SCV001880895 | uncertain significance | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003243427 | SCV003941666 | uncertain significance | Inborn genetic diseases | 2023-04-07 | criteria provided, single submitter | clinical testing | The c.4138C>T (p.R1380C) alteration is located in exon 24 (coding exon 24) of the AGRN gene. This alteration results from a C to T substitution at nucleotide position 4138, causing the arginine (R) at amino acid position 1380 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |