Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000821188 | SCV000961937 | pathogenic | Congenital myasthenic syndrome 4A | 2023-09-05 | criteria provided, single submitter | clinical testing | Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant results in the deletion of part of exon 11 (c.1319_1326+15del) of the CHRNE gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with congenital myasthenic syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 663330). This variant disrupts a region of the CHRNE protein in which other variant(s) (p.Asn452Glufs*4) have been determined to be pathogenic (PMID: 8957026, 15951177, 19064877, 21175599, 28024842, 29054425). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Ce |
RCV000996453 | SCV001151159 | likely pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000821188 | SCV004214239 | pathogenic | Congenital myasthenic syndrome 4A | 2023-07-25 | criteria provided, single submitter | clinical testing |