Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002035485 | SCV002231630 | pathogenic | Congenital myasthenic syndrome 4A | 2023-12-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr124*) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1452179). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV002035485 | SCV004212568 | pathogenic | Congenital myasthenic syndrome 4A | 2023-10-18 | criteria provided, single submitter | clinical testing |