Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001245863 | SCV001419182 | pathogenic | Congenital myasthenic syndrome 8 | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu223Profs*96) in the AGRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGRN are known to be pathogenic (PMID: 24951643). This variant is not present in population databases (gnomAD no frequency). 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: 970311). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001245863 | SCV003832920 | likely pathogenic | Congenital myasthenic syndrome 8 | 2022-10-19 | criteria provided, single submitter | clinical testing |