Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802825 | SCV000942670 | uncertain significance | Congenital myasthenic syndrome 8 | 2022-05-12 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 991 of the AGRN protein (p.Leu991Phe). This variant is present in population databases (rs749588875, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of AGRN-related conditions (PMID: 31167812). ClinVar contains an entry for this variant (Variation ID: 648160). 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: "Tolerated"; 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. |
Revvity Omics, |
RCV000802825 | SCV003823032 | uncertain significance | Congenital myasthenic syndrome 8 | 2021-04-19 | criteria provided, single submitter | clinical testing |