Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468381 | SCV004215800 | likely pathogenic | Familial infantile myasthenia | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003468381 | SCV004538412 | pathogenic | Familial infantile myasthenia | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg481Profs*30) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHAT-related conditions. For these reasons, this variant has been classified as Pathogenic. |