Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202976 | SCV001374114 | uncertain significance | Congenital myasthenic syndrome 8 | 2022-07-11 | criteria provided, single submitter | clinical testing | 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. 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"). ClinVar contains an entry for this variant (Variation ID: 934562). This variant has not been reported in the literature in individuals affected with AGRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1115 of the AGRN protein (p.Asp1115Asn). |
| Ambry Genetics | RCV003293997 | SCV003994317 | uncertain significance | Inborn genetic diseases | 2023-04-04 | criteria provided, single submitter | clinical testing | The c.3343G>A (p.D1115N) alteration is located in exon 19 (coding exon 19) of the AGRN gene. This alteration results from a G to A substitution at nucleotide position 3343, causing the aspartic acid (D) at amino acid position 1115 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |