ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys)

dbSNP: rs779726850
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 RCV001037122 SCV001200520 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-03-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 567 of the CLCN1 protein (p.Asn567Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant has been observed in individuals affected with myotonia congenita (PMID: 22094069, 28427807). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect CLCN1 protein function (PMID: 22094069).

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.