Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000807216 | SCV000947259 | pathogenic | Congenital myasthenic syndrome 4A | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp229Serfs*70) 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 not present in population databases (gnomAD no frequency). 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: 651789). For these reasons, this variant has been classified as Pathogenic. |
| Athena Diagnostics Inc | RCV000991801 | SCV001143562 | likely pathogenic | not provided | 2019-03-26 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/279628 chr). |
| Revvity Omics, |
RCV000991801 | SCV003824461 | likely pathogenic | not provided | 2022-04-28 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000807216 | SCV004214266 | pathogenic | Congenital myasthenic syndrome 4A | 2023-04-17 | criteria provided, single submitter | clinical testing |