ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs)

dbSNP: rs1563084597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691419 SCV000819197 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2017-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu548Aspfs*31) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant has not been reported in the literature in individuals with CLCN1-related disease. This variant is not present in population databases (ExAC no frequency).

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.