Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380873 | SCV001579058 | pathogenic | Familial infantile myasthenia | 2022-03-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln158*) 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. ClinVar contains an entry for this variant (Variation ID: 1069123). For these reasons, this variant has been classified as Pathogenic. |