Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003468388 | SCV004215823 | likely pathogenic | Familial infantile myasthenia | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003468388 | SCV004519724 | pathogenic | Familial infantile myasthenia | 2023-01-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CHAT-related conditions. This variant is present in population databases (rs746595362, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gly411*) 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). |