Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230067 | SCV001402535 | pathogenic | Familial infantile myasthenia | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu175Profs*26) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 11172068). ClinVar contains an entry for this variant (Variation ID: 957139). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV001230067 | SCV000039344 | pathogenic | Familial infantile myasthenia | 2001-02-13 | no assertion criteria provided | literature only |