Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802166 | SCV000941984 | likely pathogenic | Congenital myasthenic syndrome 4A | 2018-11-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant has not been reported in the literature in individuals with CHRNE-related disease. This sequence change affects an acceptor splice site in intron 3 of the CHRNE gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002501076 | SCV002807614 | likely pathogenic | Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B | 2022-05-23 | criteria provided, single submitter | clinical testing |