ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) (rs759761559)

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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488375 SCV000575537 likely pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
Invitae RCV000701179 SCV000829965 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2018-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg338*) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another CLCN1 variant in several individuals and families affected with autosomal recessive myotonia congenita (PMID: 24452722, 27118449, 22521272).  ClinVar contains an entry for this variant (Variation ID: 425428). Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). For these reasons, this variant has been classified as 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.