ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1220-6_1227del

dbSNP: rs1567635954
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701220 SCV000830011 likely pathogenic Congenital myasthenic syndrome 4A 2020-09-16 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 11 (c.1220-6_1227del) of the CHRNE gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHRNE-related disease. ClinVar contains an entry for this variant (Variation ID: 578263). Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). 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.
Baylor Genetics RCV000701220 SCV004214269 likely pathogenic Congenital myasthenic syndrome 4A 2023-03-22 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.