Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000815982 | SCV000956466 | pathogenic | Congenital myasthenic syndrome 4A | 2022-09-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 659043). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CHRNE protein in which other variant(s) (p.Trp460*, p.Tyr478*) have been determined to be pathogenic (PMID: 12417530; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 11408331). This variant is present in population databases (rs781774131, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Val424Profs*38) in the CHRNE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 70 amino acid(s) of the CHRNE protein. |
Natera, |
RCV001271735 | SCV001453125 | pathogenic | Congenital myasthenic syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |