Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000651353 | SCV000773204 | uncertain significance | Congenital myasthenic syndrome 8 | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 657 of the AGRN protein (p.Glu657Lys). This variant is present in population databases (rs377567167, gnomAD 0.009%). 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: 541145). 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. |
| Ambry Genetics | RCV003258912 | SCV003983090 | uncertain significance | Inborn genetic diseases | 2023-05-24 | criteria provided, single submitter | clinical testing | The c.1969G>A (p.E657K) alteration is located in exon 10 (coding exon 10) of the AGRN gene. This alteration results from a G to A substitution at nucleotide position 1969, causing the glutamic acid (E) at amino acid position 657 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |