Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001065700 | SCV001230672 | likely pathogenic | Congenital myasthenic syndrome 4A | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 10 of the CHRNE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). 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 not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 859561). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
Ce |
RCV001093140 | SCV001249977 | pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001093140 | SCV001789236 | likely pathogenic | not provided | 2019-08-24 | criteria provided, single submitter | clinical testing | Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV001065700 | SCV004214235 | likely pathogenic | Congenital myasthenic syndrome 4A | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001836104 | SCV002093380 | likely pathogenic | Congenital myasthenic syndrome | 2021-08-13 | no assertion criteria provided | clinical testing |