ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2148dup (p.Glu717fs)

dbSNP: rs2116384782
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 RCV001863711 SCV002121709 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. This sequence change creates a premature translational stop signal (p.Glu717Argfs*80) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.
3billion, Medical Genetics RCV002283563 SCV002572668 pathogenic Congenital myotonia, autosomal recessive form 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant is in trans with the other variant. The variant has been reported to be associated with CLCN1-related disorder (ClinVar ID: VCV001354004). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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.