Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002000015 | SCV002229024 | pathogenic | Familial infantile myasthenia | 2023-07-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1452884). This variant has not been reported in the literature in individuals affected with CHAT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg561*) in the CHAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHAT are known to be pathogenic (PMID: 12548525, 21786365, 23292760). |
Baylor Genetics | RCV002000015 | SCV004215806 | likely pathogenic | Familial infantile myasthenia | 2023-08-21 | criteria provided, single submitter | clinical testing |