ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)

dbSNP: rs1802495428
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531062 SCV001746014 pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771642 SCV004569613 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1175773). This premature translational stop signal has been observed in individual(s) with Becker disease (PMID: 24349310). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr257*) 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).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002267638 SCV004697567 pathogenic Congenital myotonia, autosomal recessive form 2024-02-20 criteria provided, single submitter clinical testing
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV002267638 SCV002549788 uncertain significance Congenital myotonia, autosomal recessive form 2022-04-06 no assertion criteria provided research

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.