ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1167-10T>C (rs543120965)

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
Athena Diagnostics Inc RCV000711215 SCV000841547 likely pathogenic not provided 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000540290 SCV000636290 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2018-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the CLCN1 gene. It does not directly change the encoded amino acid sequence of the CLCN1 protein. This variant is present in population databases (rs543120965, ExAC 0.003%). This variant has been reported in the homozygous or compound heterozygous state in several individuals and families affected with autosomal recessive myotonia congenita (PMID: 18337730, 22649220, 23739125, 22094069). ClinVar contains an entry for this variant (Variation ID: 462828). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, is a rare intronic variant that has been reported in several affected individuals and shown to segregate with myotonia congenita in multiple families. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.